-
1
-
-
84923762812
-
New initiative on precision medicine
-
[CrossRef] [PubMed]
-
Collins, F.S.; Varmus, H. A new initiative on precision medicine. N. Engl. J. Med. 2015, 372, 793-795. [CrossRef] [PubMed]
-
(2015)
N. Engl. J. Med
, vol.372
, pp. 793-795
-
-
Collins, F.S.1
Varmus, H.A.2
-
2
-
-
33745588546
-
The limits of reductionism in medicine: Could systems biology offer an alternative
-
[CrossRef] [PubMed]
-
Ahn, A.C.; Tewari, M.; Poon, C.S.; Phillips, R.S. The limits of reductionism in medicine: Could systems biology offer an alternative? PLoS Med. 2006, 3, e208. [CrossRef] [PubMed]
-
(2006)
Plos Med
, pp. 3
-
-
Ahn, A.C.1
Tewari, M.2
Poon, C.S.3
Phillips, R.S.4
-
3
-
-
10044298236
-
Reductionism and complexity in molecular biology: Scientists now have the tools to unravel biological and overcome the limitations of reductionism
-
[CrossRef] [PubMed]
-
Van Regenmortel M.H. Reductionism and complexity in molecular biology: Scientists now have the tools to unravel biological and overcome the limitations of reductionism. EMBO Rep. 2004, 5, 1016-1020. [CrossRef] [PubMed]
-
(2004)
EMBO Rep
, vol.5
, pp. 1016-1020
-
-
van Regenmortel, M.H.1
-
4
-
-
84904286951
-
Complex systems biology of networks: The riddle and the challenge
-
Springer Berlin Heidelberg: Heidelberg, Germany
-
Aon, M.A. Complex systems biology of networks: The riddle and the challenge. In Systems Biology of Metabolic and Signaling Networks; Springer Berlin Heidelberg: Heidelberg, Germany, 2014; pp. 19-35.
-
(2014)
In Systems Biology of Metabolic and Signaling Networks
, pp. 19-35
-
-
Aon, M.A.1
-
5
-
-
0036500993
-
Systems biology: A brief overview
-
[CrossRef] [PubMed]
-
Kitano, H. Systems biology: A brief overview. Science 2002, 295, 1662-1664. [CrossRef] [PubMed]
-
(2002)
Science
, vol.295
, pp. 1662-1664
-
-
Kitano, H.1
-
6
-
-
33646893457
-
Inborn errors of metabolism: The flux from mendelian to complex diseases
-
[CrossRef] [PubMed]
-
Lanpher, B.; Brunetti-Pierri, N.; Lee, B. Inborn errors of metabolism: The flux from mendelian to complex diseases. Nat. Rev. Genet. 2006, 7, 449-460. [CrossRef] [PubMed]
-
(2006)
Nat. Rev. Genet
, vol.7
, pp. 449-460
-
-
Lanpher, B.1
Brunetti-Pierri, N.2
Lee, B.3
-
7
-
-
68049140098
-
The structure of DNA. Cold Spring Harb
-
[CrossRef] [PubMed]
-
Watson, J.D.; Crick, F.H. The structure of DNA. Cold Spring Harb. Symp. Quant. Biol. 1953, 18, 123-131. [CrossRef] [PubMed]
-
(1953)
Symp. Quant. Biol
, vol.18
, pp. 123-131
-
-
Watson, J.D.1
Crick, F.H.2
-
8
-
-
84968903135
-
Coming of age: Ten years of next-generation sequencing technologies
-
[CrossRef] [PubMed]
-
Goodwin, S.; McPherson, J.D.; McCombie W.R. Coming of age: Ten years of next-generation sequencing technologies. Nat. Rev. Genet. 2016, 17, 333-351. [CrossRef] [PubMed]
-
(2016)
Nat. Rev. Genet
, vol.17
, pp. 333-351
-
-
Goodwin, S.1
McPherson, J.D.2
McCombie, W.R.3
-
9
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
[CrossRef] [PubMed]
-
Yang, Y.; Muzny, D.M.; Reid, J.G.; Bainbridge, M.N.; Willis, A.; Ward, P.A.; Braxton, A.; Beuten, J.; Xia, F.; Niu, Z. et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 2013, 369, 1502-1511. [CrossRef] [PubMed]
-
(2013)
N. Engl. J. Med.
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
-
10
-
-
84969834515
-
Nans-mediated synthesis of sialic acid is required for brain and skeletal development
-
[CrossRef] [PubMed]
-
Van Karnebeek, C.D.; Bonafe, L.; Wen, X.Y.; Tarailo-Graovac, M.; Balzano, S.; Royer-Bertrand, B.; Ashikov, A.; Garavelli, L.; Mammi, I.; Turolla, L. et al. Nans-mediated synthesis of sialic acid is required for brain and skeletal development. Nat. Genet. 2016, 48, 777-784. [CrossRef] [PubMed]
-
(2016)
Nat. Genet
, vol.48
, pp. 777-784
-
-
van Karnebeek, C.D.1
Bonafe, L.2
Wen, X.Y.3
Tarailo-Graovac, M.4
Balzano, S.5
Royer-Bertrand, B.6
Ashikov, A.7
Garavelli, L.8
Mammi, I.9
Turolla, L.10
-
11
-
-
84962953721
-
Exome sequencing and the management of neurometabolic disorders
-
[CrossRef] [PubMed]
-
Tarailo-Graovac, M.; Shyr, C.; Ross, C.J.; Horvath, G.A.; Salvarinova, R.; Ye, X.C.; Zhang, L.H.; Bhavsar, A.P.; Lee, J.J.; Drogemoller, B.I. et al. Exome sequencing and the management of neurometabolic disorders. N. Engl. J. Med. 2016, 374, 2246-2255. [CrossRef] [PubMed]
-
(2016)
N. Engl. J. Med
, vol.374
, pp. 2246-2255
-
-
Tarailo-Graovac, M.1
Shyr, C.2
Ross, C.J.3
Horvath, G.A.4
Salvarinova, R.5
Ye, X.C.6
Zhang, L.H.7
Bhavsar, A.P.8
Lee, J.J.9
Drogemoller, B.I.10
-
12
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
[CrossRef] [PubMed]
-
Worthey, E.A.; Mayer, A.N.; Syverson, G.D.; Helbling, D.; Bonacci, B.B.; Decker, B.; Serpe, J.M.; Dasu, T.; Tschannen, M.R.; Veith, R.L. et al. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 2011, 13, 255-262. [CrossRef] [PubMed]
-
(2011)
Genet. Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
-
13
-
-
84958928645
-
Clinical implications of omics and systems medicine: Focus on predictive and individualized treatment
-
[CrossRef] [PubMed]
-
Benson, M. Clinical implications of omics and systems medicine: Focus on predictive and individualized treatment. J. Intern. Med. 2016, 279, 229-240. [CrossRef] [PubMed]
-
(2016)
J. Intern. Med
, vol.279
, pp. 229-240
-
-
Benson, M.1
-
14
-
-
84921527869
-
Clinical validation of targeted next-generation sequencing for inherited disorders
-
[CrossRef] [PubMed]
-
Yohe, S.; Hauge, A.; Bunjer, K.; Kemmer, T.; Bower, M.; Schomaker, M.; Onsongo, G.; Wilson, J.; Erdmann, J.; Zhou, Y. et al. Clinical validation of targeted next-generation sequencing for inherited disorders. Arch. Pathol. Lab. Med. 2015, 139, 204-210. [CrossRef] [PubMed]
-
(2015)
Arch. Pathol. Lab. Med
, vol.139
, pp. 204-210
-
-
Yohe, S.1
Hauge, A.2
Bunjer, K.3
Kemmer, T.4
Bower, M.5
Schomaker, M.6
Onsongo, G.7
Wilson, J.8
Erdmann, J.9
Zhou, Y.10
-
15
-
-
84974721068
-
Targeted next generation sequencing in patients with inborn errors of metabolism
-
[CrossRef] [PubMed]
-
Yubero, D.; Brandi, N.; Ormazabal, A.; Garcia-Cazorla, A.; Perez-Duenas, B.; Campistol, J.; Ribes, A.; Palau, F.; Artuch, R.; Armstrong, J. et al. Targeted next generation sequencing in patients with inborn errors of metabolism. PLoS ONE 2016, 11, e0156359. [CrossRef] [PubMed]
-
(2016)
Plos ONE
, vol.11
-
-
Yubero, D.1
Brandi, N.2
Ormazabal, A.3
Garcia-Cazorla, A.4
Perez-Duenas, B.5
Campistol, J.6
Ribes, A.7
Palau, F.8
Artuch, R.9
Armstrong, J.10
-
16
-
-
77952574849
-
Uncovering the roles of rare variants in common disease through whole-genome sequencing
-
[CrossRef] [PubMed]
-
Cirulli, E.T.; Goldstein, D.B. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat. Rev. Genet. 2010, 11, 415-425. [CrossRef] [PubMed]
-
(2010)
Nat. Rev. Genet
, vol.11
, pp. 415-425
-
-
Cirulli, E.T.1
Goldstein, D.B.2
-
17
-
-
84949627233
-
Exome and genome sequencing: A revolution for the discovery and diagnosis of monogenic disorders
-
[CrossRef] [PubMed]
-
Stranneheim, H.; Wedell, A. Exome and genome sequencing: A revolution for the discovery and diagnosis of monogenic disorders. J. Intern. Med. 2016, 279, 3-15. [CrossRef] [PubMed]
-
(2016)
J. Intern. Med
, vol.279
, pp. 3-15
-
-
Stranneheim, H.1
Wedell, A.2
-
18
-
-
84936765000
-
New insights into the performance of human whole-exome capture platforms
-
[CrossRef] [PubMed]
-
Meienberg, J.; Zerjavic, K.; Keller, I.; Okoniewski, M.; Patrignani, A.; Ludin, K.; Xu, Z.; Steinmann, B.; Carrel, T.; Rothlisberger, B. et al. New insights into the performance of human whole-exome capture platforms. Nucleic Acids Res. 2015, 43, e76. [CrossRef] [PubMed]
-
(2015)
Nucleic Acids Res
, vol.43
-
-
Meienberg, J.1
Zerjavic, K.2
Keller, I.3
Okoniewski, M.4
Patrignani, A.5
Ludin, K.6
Xu, Z.7
Steinmann, B.8
Carrel, T.9
Rothlisberger, B.10
-
19
-
-
46249106990
-
Mapping and quantifying mammalian transcriptomes by RNA-Seq
-
[CrossRef] [PubMed]
-
Mortazavi, A.; Williams, B.A.; McCue, K.; Schaeffer, L.; Wold, B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat. Methods 2008, 5, 621-628. [CrossRef] [PubMed]
-
(2008)
Nat. Methods
, vol.5
, pp. 621-628
-
-
Mortazavi, A.1
Williams, B.A.2
McCue, K.3
Schaeffer, L.4
Wold, B.5
-
20
-
-
84896726510
-
Next-generation technologies and data analytical approaches for epigenomics
-
[CrossRef] [PubMed]
-
Mensaert, K.; Denil, S.; Trooskens, G.; van Criekinge, W.; Thas, O.; de Meyer, T. Next-generation technologies and data analytical approaches for epigenomics. Environ. Mol. Mutagen. 2014, 55, 155-170. [CrossRef] [PubMed]
-
(2014)
Environ. Mol. Mutagen
, vol.55
, pp. 155-170
-
-
Mensaert, K.1
Denil, S.2
Trooskens, G.3
van Criekinge, W.4
Thas, O.5
de Meyer, T.6
-
21
-
-
0017681196
-
DNA sequencing with chain-terminating inhibitors
-
[CrossRef] [PubMed]
-
Sanger, F.; Nicklen, S.; Coulson, A.R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 1977, 74, 5463-5467. [CrossRef] [PubMed]
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 5463-5467
-
-
Sanger, F.1
Nicklen, S.2
Coulson, A.R.3
-
22
-
-
0031083623
-
High-throughput DNA sequencing on a capillary array electrophoresis system
-
Marsh, M.; Tu, O.; Dolnik, V.; Roach, D.; Solomon, N.; Bechtol, K.; Smietana, P.; Wang, L.; Li, X.; Cartwright, P. et al. High-throughput DNA sequencing on a capillary array electrophoresis system. J. Capill. Electrophor. 1997, 4, 83-89.
-
(1997)
J. Capill. Electrophor
, vol.4
, pp. 83-89
-
-
Marsh, M.1
Tu, O.2
Dolnik, V.3
Roach, D.4
Solomon, N.5
Bechtol, K.6
Smietana, P.7
Wang, L.8
Li, X.9
Cartwright, P.10
-
23
-
-
0024355435
-
Sequencing methods involving polymerase chain reaction
-
[PubMed]
-
McBride, L.J.; Koepf, S.M.; Gibbs, R.A.; Salser, W.; Mayrand, P.E.; Hunkapiller, M.W.; Kronick, M.N. Automated DNA sequencing methods involving polymerase chain reaction. Clin. Chem. 1989, 35, 2196-2201. [PubMed]
-
(1989)
Clin. Chem
, vol.35
, pp. 2196-2201
-
-
McBride, L.J.1
Koepf, S.M.2
Gibbs, R.A.3
Salser, W.4
Mayrand, P.E.5
Hunkapiller, M.W.6
Kronick, M.N.7
Automated, D.8
-
24
-
-
0023440258
-
A system for rapid DNA sequencing with fluorescent chain-terminating dideoxynucleotides
-
[CrossRef] [PubMed]
-
Prober, J.M.; Trainor, G.L.; Dam, R.J.; Hobbs, F.W.; Robertson, C.W.; Zagursky, R.J.; Cocuzza, A.J.; Jensen, M.A.; Baumeister, K. A system for rapid DNA sequencing with fluorescent chain-terminating dideoxynucleotides. Science 1987, 238, 336-341. [CrossRef] [PubMed]
-
(1987)
Science
, vol.238
, pp. 336-341
-
-
Prober, J.M.1
Trainor, G.L.2
Dam, R.J.3
Hobbs, F.W.4
Robertson, C.W.5
Zagursky, R.J.6
Cocuzza, A.J.7
Jensen, M.A.8
Baumeister, K.9
-
25
-
-
0035895505
-
The sequence of the human genome
-
[CrossRef] [PubMed]
-
Venter, J.C.; Adams, M.D.; Myers, E.W.; Li, P.W.; Mural, R.J.; Sutton, G.G.; Smith, H.O.; Yandell, M.; Evans, C.A.; Holt, R.A. et al. The sequence of the human genome. Science 2001, 291, 1304-1351. [CrossRef] [PubMed]
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
Smith, H.O.7
Yandell, M.8
Evans, C.A.9
Holt, R.A.10
-
26
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
[CrossRef] [PubMed]
-
Lander, E.S.; Linton, L.M.; Birren, B.; Nusbaum, C.; Zody, M.C.; Baldwin, J.; Devon, K.; Dewar, K.; Doyle, M.; FitzHugh, W. et al. Initial sequencing and analysis of the human genome. Nature 2001, 409, 860-921. [CrossRef] [PubMed]
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
Fitzhugh, W.10
-
27
-
-
84929662757
-
High-throughput sequencing technologies
-
[CrossRef] [PubMed]
-
Reuter, J.A.; Spacek, D.V.; Snyder, M.P. High-throughput sequencing technologies. Mol. Cell 2015, 58, 586-597. [CrossRef] [PubMed]
-
(2015)
Mol. Cell
, vol.58
, pp. 586-597
-
-
Reuter, J.A.1
Spacek, D.V.2
Snyder, M.P.3
-
28
-
-
84893522267
-
Library construction for next-generation sequencing: Overviews and challenges
-
[CrossRef] [PubMed]
-
Head, S.R.; Komori, H.K.; LaMere, S.A.; Whisenant, T.; van Nieuwerburgh, F.; Salomon, D.R.; Ordoukhanian, P. Library construction for next-generation sequencing: Overviews and challenges. Biotechniques 2014, 56, 61. [CrossRef] [PubMed]
-
(2014)
Biotechniques
, vol.56
, pp. 61
-
-
Head, S.R.1
Komori, H.K.2
Lamere, S.A.3
Whisenant, T.4
van Nieuwerburgh, F.5
Salomon, D.R.6
Ordoukhanian, P.7
-
29
-
-
84879627975
-
Next-generation sequencing platforms
-
[CrossRef] [PubMed]
-
Mardis, E.R. Next-generation sequencing platforms. Annu. Rev. Anal. Chem. 2013, 6, 287-303. [CrossRef] [PubMed]
-
(2013)
Annu. Rev. Anal. Chem
, vol.6
, pp. 287-303
-
-
Mardis, E.R.1
-
30
-
-
85027949514
-
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
-
[CrossRef] [PubMed]
-
Lim, E.C.; Brett, M.; Lai, A.H.; Lee, S.P.; Tan, E.S.; Jamuar, S.S.; Ng, I.S.; Tan, E.C. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Hum. Genom. 2015, 9, 33. [CrossRef] [PubMed]
-
(2015)
Hum. Genom
, vol.9
, pp. 33
-
-
Lim, E.C.1
Brett, M.2
Lai, A.H.3
Lee, S.P.4
Tan, E.S.5
Jamuar, S.S.6
Ng, I.S.7
Tan, E.C.8
-
31
-
-
84903618205
-
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
-
[CrossRef] [PubMed]
-
Taylor, R.W.; Pyle, A.; Griffin, H.; Blakely, E.L.; Duff, J.; He, L.; Smertenko, T.; Alston, C.L.; Neeve, V.C.; Best, A. et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014, 312, 68-77. [CrossRef] [PubMed]
-
(2014)
JAMA
, vol.312
, pp. 68-77
-
-
Taylor, R.W.1
Pyle, A.2
Griffin, H.3
Blakely, E.L.4
Duff, J.5
He, L.6
Smertenko, T.7
Alston, C.L.8
Neeve, V.C.9
Best, A.10
-
32
-
-
84948712119
-
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
-
[CrossRef] [PubMed]
-
Howard, H.C.; Knoppers, B.M.; Cornel, M.C.; Wright Clayton, E.; Senecal, K.; Borry, P. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes. Eur. J. Hum. Genet. 2015, 23, 1593-1600. [CrossRef] [PubMed]
-
(2015)
Eur. J. Hum. Genet
, vol.23
, pp. 1593-1600
-
-
Howard, H.C.1
Knoppers, B.M.2
Cornel, M.C.3
Wright Clayton, E.4
Senecal, K.5
Borry, P.6
-
33
-
-
84982270082
-
Towards precision medicine
-
[CrossRef] [PubMed]
-
Ashley, E.A. Towards precision medicine. Nat. Rev. Genet. 2016, 17, 507-522. [CrossRef] [PubMed]
-
(2016)
Nat. Rev. Genet
, vol.17
, pp. 507-522
-
-
Ashley, E.A.1
-
34
-
-
84987741834
-
A precision metric for clinical genome sequencing
-
[CrossRef]
-
Goldfeder, R.L.; Ashley, E.A. A precision metric for clinical genome sequencing. bioRxiv 2016, 051490. [CrossRef]
-
(2016)
Biorxiv
-
-
Goldfeder, R.L.1
Ashley, E.A.2
-
35
-
-
34249337761
-
Perceptions of epigenetics
-
[CrossRef] [PubMed]
-
Bird, A. Perceptions of epigenetics. Nature 2007, 447, 396-398. [CrossRef] [PubMed]
-
(2007)
Nature
, vol.447
, pp. 396-398
-
-
Bird, A.1
-
36
-
-
84895446627
-
Epigenetics: The language of the cell?
-
[CrossRef] [PubMed]
-
Huang, B.; Jiang, C.; Zhang, R. Epigenetics: The language of the cell? Epigenomics 2014, 6, 73-88. [CrossRef] [PubMed]
-
(2014)
Epigenomics
, vol.6
, pp. 73-88
-
-
Huang, B.1
Jiang, C.2
Zhang, R.3
-
37
-
-
84921421088
-
A comprehensive view of the epigenetic landscape. Part II: Histone post-translational modification, nucleosome level, and chromatin regulation by ncRNAs
-
[CrossRef] [PubMed]
-
Sadakierska-Chudy, A.; Filip, M. A comprehensive view of the epigenetic landscape. Part II: Histone post-translational modification, nucleosome level, and chromatin regulation by ncRNAs. Neurotox. Res. 2015, 27, 172-197. [CrossRef] [PubMed]
-
(2015)
Neurotox. Res
, vol.27
, pp. 172-197
-
-
Sadakierska-Chudy, A.1
Filip, M.2
-
38
-
-
84922004823
-
Comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants
-
[CrossRef] [PubMed]
-
Sadakierska-Chudy, A.; Kostrzewa, R.M.; Filip, M. A comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants. Neurotox. Res. 2015, 27, 84-97. [CrossRef] [PubMed]
-
(2015)
Neurotox. Res
, vol.27
, pp. 84-97
-
-
Sadakierska-Chudy, A.1
Kostrzewa, R.M.2
Filip, M.A.3
-
39
-
-
84923362619
-
Integrative analysis of 111 reference human epigenomes
-
[CrossRef] [PubMed]
-
Kundaje, A.; Meuleman, W.; Ernst, J.; Bilenky, M.; Yen, A.; Heravi-Moussavi, A.; Kheradpour, P.; Zhang, Z.; Wang, J.; Ziller, M.J. et al. Integrative analysis of 111 reference human epigenomes. Nature 2015, 518, 317-330. [CrossRef] [PubMed]
-
(2015)
Nature
, vol.518
, pp. 317-330
-
-
Kundaje, A.1
Meuleman, W.2
Ernst, J.3
Bilenky, M.4
Yen, A.5
Heravi-Moussavi, A.6
Kheradpour, P.7
Zhang, Z.8
Wang, J.9
Ziller, M.J.10
-
40
-
-
34249026300
-
High-resolution profiling of histone methylations in the human genome
-
[CrossRef] [PubMed]
-
Barski, A.; Cuddapah, S.; Cui, K.; Roh, T.Y.; Schones, D.E.; Wang, Z.; Wei, G.; Chepelev, I.; Zhao, K. High-resolution profiling of histone methylations in the human genome. Cell 2007, 129, 823-837. [CrossRef] [PubMed]
-
(2007)
Cell
, vol.129
, pp. 823-837
-
-
Barski, A.1
Cuddapah, S.2
Cui, K.3
Roh, T.Y.4
Schones, D.E.5
Wang, Z.6
Wei, G.7
Chepelev, I.8
Zhao, K.9
-
41
-
-
44849121274
-
Identification of active transcriptional regulatory modules by the functional assay of DNA from nucleosome-free regions
-
[CrossRef] [PubMed]
-
Yaragatti, M.; Basilico, C.; Dailey, L. Identification of active transcriptional regulatory modules by the functional assay of DNA from nucleosome-free regions. Genome Res. 2008, 18, 930-938. [CrossRef] [PubMed]
-
(2008)
Genome Res
, vol.18
, pp. 930-938
-
-
Yaragatti, M.1
Basilico, C.2
Dailey, L.3
-
42
-
-
42749087226
-
Highly integrated single-base resolution maps of the epigenome in arabidopsis
-
[CrossRef] [PubMed]
-
Lister, R.; O’Malley, R.C.; Tonti-Filippini, J.; Gregory, B.D.; Berry, C.C.; Millar, A.H.; Ecker, J.R. Highly integrated single-base resolution maps of the epigenome in arabidopsis. Cell 2008, 133, 523-536. [CrossRef] [PubMed]
-
(2008)
Cell
, vol.133
, pp. 523-536
-
-
Lister, R.1
O’Malley, R.C.2
Tonti-Filippini, J.3
Gregory, B.D.4
Berry, C.C.5
Millar, A.H.6
Ecker, J.R.7
-
43
-
-
84949212255
-
Atac-seq: A method for assaying chromatin accessibility genome-wide
-
[CrossRef]
-
Buenrostro, J.D.; Wu, B.; Chang, H.Y.; Greenleaf, W.J. Atac-seq: A method for assaying chromatin accessibility genome-wide. Curr. Protoc. Mol. Biol. 2015, 109. [CrossRef]
-
(2015)
Curr. Protoc. Mol. Biol
, pp. 109
-
-
Buenrostro, J.D.1
Wu, B.2
Chang, H.Y.3
Greenleaf, W.J.4
-
44
-
-
84908207355
-
Identifying and mitigating bias in next-generation sequencing methods for chromatin biology
-
[CrossRef] [PubMed]
-
Meyer, C.A.; Liu, X.S. Identifying and mitigating bias in next-generation sequencing methods for chromatin biology. Nat. Rev. Genet. 2014, 15, 709-721. [CrossRef] [PubMed]
-
(2014)
Nat. Rev. Genet
, vol.15
, pp. 709-721
-
-
Meyer, C.A.1
Liu, X.S.2
-
45
-
-
84871403110
-
Epigenome-wide analysis in familial hypercholesterolemia identified new loci associated with high-density lipoprotein cholesterol concentration
-
[CrossRef] [PubMed]
-
Guay, S.P.; Voisin, G.; Brisson, D.; Munger, J.; Lamarche, B.; Gaudet, D.; Bouchard, L. Epigenome-wide analysis in familial hypercholesterolemia identified new loci associated with high-density lipoprotein cholesterol concentration. Epigenomics 2012, 4, 623-639. [CrossRef] [PubMed]
-
(2012)
Epigenomics
, vol.4
, pp. 623-639
-
-
Guay, S.P.1
Voisin, G.2
Brisson, D.3
Munger, J.4
Lamarche, B.5
Gaudet, D.6
Bouchard, L.7
-
46
-
-
57749195712
-
RNA-seq: A revolutionary tool for transcriptomics
-
[CrossRef] [PubMed]
-
Wang, Z.; Gerstein, M.; Snyder, M. RNA-seq: A revolutionary tool for transcriptomics. Nat. Rev. Genet. 2009, 10, 57-63. [CrossRef] [PubMed]
-
(2009)
Nat. Rev. Genet
, vol.10
, pp. 57-63
-
-
Wang, Z.1
Gerstein, M.2
Snyder, M.3
-
47
-
-
84856773498
-
A transcriptomic approach to search for novel phenotypic regulators in mcardle disease
-
[CrossRef] [PubMed]
-
Nogales-Gadea, G.; Consuegra-Garcia, I.; Rubio, J.C.; Arenas, J.; Cuadros, M.; Camara, Y.; Torres-Torronteras, J.; Fiuza-Luces, C.; Lucia, A.; Martin, M.A. et al. A transcriptomic approach to search for novel phenotypic regulators in mcardle disease. PLoS ONE 2012, 7, e31718. [CrossRef] [PubMed]
-
(2012)
Plos ONE
, vol.7
-
-
Nogales-Gadea, G.1
Consuegra-Garcia, I.2
Rubio, J.C.3
Arenas, J.4
Cuadros, M.5
Camara, Y.6
Torres-Torronteras, J.7
Fiuza-Luces, C.8
Lucia, A.9
Martin, M.A.10
-
48
-
-
84884746400
-
Circadian transcriptome analysis in human fibroblasts from hunter syndrome and impact of iduronate-2-sulfatase treatment
-
[CrossRef] [PubMed]
-
Mazzoccoli, G.; Tomanin, R.; Mazza, T.; D’Avanzo, F.; Salvalaio, M.; Rigon, L.; Zanetti, A.; Pazienza, V.; Francavilla, M.; Giuliani, F. et al. Circadian transcriptome analysis in human fibroblasts from hunter syndrome and impact of iduronate-2-sulfatase treatment. BMC Med. Genom. 2013, 6, 37. [CrossRef] [PubMed]
-
(2013)
BMC Med. Genom
, vol.6
, pp. 37
-
-
Mazzoccoli, G.1
Tomanin, R.2
Mazza, T.3
D’Avanzo, F.4
Salvalaio, M.5
Rigon, L.6
Zanetti, A.7
Pazienza, V.8
Francavilla, M.9
Giuliani, F.10
-
49
-
-
84858290130
-
Exploring the transcriptomic variation caused by the finnish founder mutation of lysinuric protein intolerance (LPI)
-
[CrossRef] [PubMed]
-
Tringham, M.; Kurko, J.; Tanner, L.; Tuikkala, J.; Nevalainen, O.S.; Niinikoski, H.; Nanto-Salonen, K.; Hietala, M.; Simell, O.; Mykkanen, J. Exploring the transcriptomic variation caused by the finnish founder mutation of lysinuric protein intolerance (LPI). Mol. Genet. Metab. 2012, 105, 408-415. [CrossRef] [PubMed]
-
(2012)
Mol. Genet. Metab
, vol.105
, pp. 408-415
-
-
Tringham, M.1
Kurko, J.2
Tanner, L.3
Tuikkala, J.4
Nevalainen, O.S.5
Niinikoski, H.6
Nanto-Salonen, K.7
Hietala, M.8
Simell, O.9
Mykkanen, J.10
-
50
-
-
84903130025
-
Transcriptomic approach to Lesch-Nyhan disease
-
[CrossRef] [PubMed]
-
Dauphinot, L.; Mockel, L.; Cahu, J.; Jinnah, H.A.; Ledroit, M.; Potier, M.C.; Ceballos-Picot, I. Transcriptomic approach to Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids 2014, 33, 208-217. [CrossRef] [PubMed]
-
(2014)
Nucleosides Nucleotides Nucleic Acids
, vol.33
, pp. 208-217
-
-
Dauphinot, L.1
Mockel, L.2
Cahu, J.3
Jinnah, H.A.4
Ledroit, M.5
Potier, M.C.6
Ceballos-Picot, I.7
-
51
-
-
84865066581
-
Microarray expression analysis and identification of serum biomarkers for niemann-pick disease, type c1
-
[CrossRef] [PubMed]
-
Cluzeau, C.V.; Watkins-Chow, D.E.; Fu, R.; Borate, B.; Yanjanin, N.; Dail, M.K.; Davidson, C.D.; Walkley, S.U.; Ory, D.S.; Wassif, C.A. et al. Microarray expression analysis and identification of serum biomarkers for niemann-pick disease, type c1. Hum. Mol. Genet. 2012, 21, 3632-3646. [CrossRef] [PubMed]
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 3632-3646
-
-
Cluzeau, C.V.1
Watkins-Chow, D.E.2
Fu, R.3
Borate, B.4
Yanjanin, N.5
Dail, M.K.6
Davidson, C.D.7
Walkley, S.U.8
Ory, D.S.9
Wassif, C.A.10
-
52
-
-
84953738781
-
Toward merging untargeted and targeted methods in mass spectrometry-based metabolomics and lipidomics
-
[CrossRef] [PubMed]
-
Cajka, T.; Fiehn, O. Toward merging untargeted and targeted methods in mass spectrometry-based metabolomics and lipidomics. Anal. Chem. 2015, 88, 524-545. [CrossRef] [PubMed]
-
(2015)
Anal. Chem
, vol.88
, pp. 524-545
-
-
Cajka, T.1
Fiehn, O.2
-
53
-
-
84930067094
-
Clinical protein mass spectrometry
-
[CrossRef] [PubMed]
-
Scherl, A. Clinical protein mass spectrometry. Methods 2015, 81, 3-14. [CrossRef] [PubMed]
-
(2015)
Methods
, vol.81
, pp. 3-14
-
-
Scherl, A.1
-
54
-
-
84979649391
-
Human srmatlas: A resource of targeted assays to quantify the complete human proteome
-
[CrossRef] [PubMed]
-
Kusebauch, U.; Campbell, D.S.; Deutsch, E.W.; Chu, C.S.; Spicer, D.A.; Brusniak, M.-Y.; Slagel, J.; Sun, Z.; Stevens, J.; Grimes, B. et al. Human srmatlas: A resource of targeted assays to quantify the complete human proteome. Cell 2016, 166, 766-778. [CrossRef] [PubMed]
-
(2016)
Cell
, vol.166
, pp. 766-778
-
-
Kusebauch, U.1
Campbell, D.S.2
Deutsch, E.W.3
Chu, C.S.4
Spicer, D.A.5
Brusniak, M.-Y.6
Slagel, J.7
Sun, Z.8
Stevens, J.9
Grimes, B.10
-
55
-
-
84975521607
-
Advanced multidimensional separations in mass spectrometry: Navigating the big data deluge
-
[CrossRef] [PubMed]
-
May, J.C.; McLean, J.A. Advanced multidimensional separations in mass spectrometry: Navigating the big data deluge. Annu. Rev. Anal. Chem. 2016, 9, 387-409. [CrossRef] [PubMed]
-
(2016)
Annu. Rev. Anal. Chem
, vol.9
, pp. 387-409
-
-
May, J.C.1
McLean, J.A.2
-
56
-
-
84990253074
-
Optimization of a liquid chromatography ion mobility-mass spectrometry method for untargeted metabolomics using experimental design and multivariate data analysis
-
[CrossRef] [PubMed]
-
Tebani, A.; Schmitz-Afonso, I.; Rutledge, D.N.; Gonzalez, B.J.; Bekri, S.; Afonso, C. Optimization of a liquid chromatography ion mobility-mass spectrometry method for untargeted metabolomics using experimental design and multivariate data analysis. Anal. Chim. Acta 2016, 913, 55-62. [CrossRef] [PubMed]
-
(2016)
Anal. Chim. Acta
, vol.913
, pp. 55-62
-
-
Tebani, A.1
Schmitz-Afonso, I.2
Rutledge, D.N.3
Gonzalez, B.J.4
Bekri, S.5
Afonso, C.6
-
57
-
-
0031398974
-
Protein identification in the post-genome era: The rapid rise of proteomics
-
[CrossRef]
-
James, P. Protein identification in the post-genome era: The rapid rise of proteomics. Quart. Rev. Biophys. 1997, 30, 279-331. [CrossRef]
-
(1997)
Quart. Rev. Biophys
, vol.30
, pp. 279-331
-
-
James, P.1
-
58
-
-
84910679144
-
Proteome-wide post-translational modification statistics: Frequency analysis and curation of the swiss-prot database
-
[CrossRef] [PubMed]
-
Khoury, G.A.; Baliban, R.C.; Floudas, C.A. Proteome-wide post-translational modification statistics: Frequency analysis and curation of the swiss-prot database. Sci. Rep. 2011, 1, 90. [CrossRef] [PubMed]
-
(2011)
Sci. Rep
, vol.1
, pp. 90
-
-
Khoury, G.A.1
Baliban, R.C.2
Floudas, C.A.3
-
59
-
-
84928081356
-
Clinical proteomics: Promises, challenges and limitations of affinity arrays
-
[CrossRef] [PubMed]
-
Betzen, C.; Alhamdani, M.S.S.; Lueong, S.; Schröder, C.; Stang, A.; Hoheisel, J.D. Clinical proteomics: Promises, challenges and limitations of affinity arrays. Proteom. Clin. Appl. 2015, 9, 342-347. [CrossRef] [PubMed]
-
(2015)
Proteom. Clin. Appl
, vol.9
, pp. 342-347
-
-
Betzen, C.1
Alhamdani, M.S.S.2
Lueong, S.3
Schröder, C.4
Stang, A.5
Hoheisel, J.D.6
-
60
-
-
84960384497
-
Clinical applications of ms-based protein quantification
-
[CrossRef] [PubMed]
-
Sabbagh, B.; Mindt, S.; Neumaier, M.; Findeisen, P. Clinical applications of ms-based protein quantification. Proteom. Clin. Appl. 2016, 10, 323-345. [CrossRef] [PubMed]
-
(2016)
Proteom. Clin. Appl
, vol.10
, pp. 323-345
-
-
Sabbagh, B.1
Mindt, S.2
Neumaier, M.3
Findeisen, P.4
-
61
-
-
84973441962
-
The clinical utility of mass spectrometry based protein assays
-
[CrossRef] [PubMed]
-
Lassman, M.E.; McAvoy, T.; Chappell, D.L.; Lee, A.Y.; Zhao, X.X.; Laterza, O.F. The clinical utility of mass spectrometry based protein assays. Clin. Chim. Acta 2016, 459, 155-161. [CrossRef] [PubMed]
-
(2016)
Clin. Chim. Acta
, vol.459
, pp. 155-161
-
-
Lassman, M.E.1
McAvoy, T.2
Chappell, D.L.3
Lee, A.Y.4
Zhao, X.X.5
Laterza, O.F.6
-
62
-
-
84939267729
-
Urine proteomic analysis in cystinuric children with renal stones
-
217.e1-217.e6[CrossRef] [PubMed]
-
Kovacevic, L.; Lu, H.; Goldfarb, D.S.; Lakshmanan, Y.; Caruso, J.A. Urine proteomic analysis in cystinuric children with renal stones. J. Pediatr. Urol. 2015, 11, 217.e1-217.e6. [CrossRef] [PubMed]
-
(2015)
J. Pediatr. Urol
, vol.11
-
-
Kovacevic, L.1
Lu, H.2
Goldfarb, D.S.3
Lakshmanan, Y.4
Caruso, J.A.5
-
63
-
-
84950119296
-
Proteomic discovery and development of a multiplexed targeted mrm-lc-ms/ms assay for urine biomarkers of extracellular matrix disruption in mucopolysaccharidoses I, II, and VI
-
[CrossRef] [PubMed]
-
Heywood, W.E.; Camuzeaux, S.; Doykov, I.; Patel, N.; Preece, R.L.; Footitt, E.; Cleary, M.; Clayton, P.; Grunewald, S.; Abulhoul, L. et al. Proteomic discovery and development of a multiplexed targeted mrm-lc-ms/ms assay for urine biomarkers of extracellular matrix disruption in mucopolysaccharidoses I, II, and VI. Anal. Chem. 2015, 87, 12238-12244. [CrossRef] [PubMed]
-
(2015)
Anal. Chem
, vol.87
, pp. 12238-12244
-
-
Heywood, W.E.1
Camuzeaux, S.2
Doykov, I.3
Patel, N.4
Preece, R.L.5
Footitt, E.6
Cleary, M.7
Clayton, P.8
Grunewald, S.9
Abulhoul, L.10
-
64
-
-
84975156981
-
Systems proteomics of liver mitochondria function
-
aad0189[CrossRef] [PubMed]
-
Williams, E.G.; Wu, Y.; Jha, P.; Dubuis, S.; Blattmann, P.; Argmann, C.A.; Houten, S.M.; Amariuta, T.; Wolski, W.; Zamboni, N. et al. Systems proteomics of liver mitochondria function. Science 2016, 352, aad0189. [CrossRef] [PubMed]
-
(2016)
Science
, vol.352
-
-
Williams, E.G.1
Wu, Y.2
Jha, P.3
Dubuis, S.4
Blattmann, P.5
Argmann, C.A.6
Houten, S.M.7
Amariuta, T.8
Wolski, W.9
Zamboni, N.10
-
65
-
-
84879446684
-
Bringing proteomics into the clinic: The need for the field to finally take itself seriously
-
[CrossRef] [PubMed]
-
Martens, L. Bringing proteomics into the clinic: The need for the field to finally take itself seriously. Proteom. Clin. Appl. 2013, 7, 388-391. [CrossRef] [PubMed]
-
(2013)
Proteom. Clin. Appl
, vol.7
, pp. 388-391
-
-
Martens, L.1
-
66
-
-
50249099816
-
Metabolic phenotyping in health and disease
-
[CrossRef] [PubMed]
-
Holmes, E.; Wilson, I.D.; Nicholson, J.K. Metabolic phenotyping in health and disease. Cell 2008, 134, 714-717. [CrossRef] [PubMed]
-
(2008)
Cell
, vol.134
, pp. 714-717
-
-
Holmes, E.1
Wilson, I.D.2
Nicholson, J.K.3
-
67
-
-
0032168794
-
Systematic functional analysis of the yeast genome
-
[CrossRef]
-
Oliver, S.G.; Winson, M.K.; Kell, D.B.; Baganz, F. Systematic functional analysis of the yeast genome. Trends Biotechnol. 1998, 16, 373-378. [CrossRef]
-
(1998)
Trends Biotechnol
, vol.16
, pp. 373-378
-
-
Oliver, S.G.1
Winson, M.K.2
Kell, D.B.3
Baganz, F.4
-
68
-
-
0032694577
-
Metabonomics”: Understanding the metabolic responses of living systems to pathophysiological stimuli via multivariate statistical analysis of biological NMR spectroscopic data
-
[CrossRef] [PubMed]
-
Nicholson, J.K.; Lindon, J.C.; Holmes, E. “Metabonomics”: Understanding the metabolic responses of living systems to pathophysiological stimuli via multivariate statistical analysis of biological NMR spectroscopic data. Xenobiotica 1999, 29, 1181-1189. [CrossRef] [PubMed]
-
(1999)
Xenobiotica
, vol.29
, pp. 1181-1189
-
-
Nicholson, J.K.1
Lindon, J.C.2
Holmes, E.3
-
69
-
-
84869049715
-
Metabolic phenotyping in clinical and surgical environments
-
[CrossRef] [PubMed]
-
Nicholson, J.K.; Holmes, E.; Kinross, J.M.; Darzi, A.W.; Takats, Z.; Lindon, J.C. Metabolic phenotyping in clinical and surgical environments. Nature 2012, 491, 384-392. [CrossRef] [PubMed]
-
(2012)
Nature
, vol.491
, pp. 384-392
-
-
Nicholson, J.K.1
Holmes, E.2
Kinross, J.M.3
Darzi, A.W.4
Takats, Z.5
Lindon, J.C.6
-
70
-
-
84950326824
-
Biochemical insights from population studies with genetics and metabolomics
-
[CrossRef] [PubMed]
-
Suhre, K.; Raffler, J.; Kastenmüller, G. Biochemical insights from population studies with genetics and metabolomics. Arch. Biochem. Biophys. 2016, 589, 168-176. [CrossRef] [PubMed]
-
(2016)
Arch. Biochem. Biophys
, vol.589
, pp. 168-176
-
-
Suhre, K.1
Raffler, J.2
Kastenmüller, G.3
-
71
-
-
85039998984
-
Analytical methods in untargeted metabolomics: State of the art in 2015
-
[CrossRef] [PubMed]
-
Alonso, A.; Marsal, S.; Julia, A. Analytical methods in untargeted metabolomics: State of the art in 2015. Front. Bioeng. Biotechnol. 2015, 3, 23. [CrossRef] [PubMed]
-
(2015)
Front. Bioeng. Biotechnol
, vol.3
, pp. 23
-
-
Alonso, A.1
Marsal, S.2
Julia, A.3
-
72
-
-
84929668047
-
Current status of newborn screening worldwide:2015
-
[CrossRef] [PubMed]
-
Therrell, B.L.; Padilla, C.D.; Loeber, J.G.; Kneisser, I.; Saadallah, A.; Borrajo, G.J.; Adams, J. Current status of newborn screening worldwide:2015. Semin. Perinatol. 2015, 39, 171-187. [CrossRef] [PubMed]
-
(2015)
Semin. Perinatol
, vol.39
, pp. 171-187
-
-
Therrell, B.L.1
Padilla, C.D.2
Loeber, J.G.3
Kneisser, I.4
Saadallah, A.5
Borrajo, G.J.6
Adams, J.7
-
73
-
-
84869485096
-
Metabonomics of newborn screening dried blood spot samples: A novel approach in the screening and diagnostics of inborn errors of metabolism. Anal
-
[CrossRef] [PubMed]
-
Denes, J.; Szabo, E.; Robinette, S.L.; Szatmari, I.; Szonyi, L.; Kreuder, J.G.; Rauterberg, E.W.; Takats, Z. Metabonomics of newborn screening dried blood spot samples: A novel approach in the screening and diagnostics of inborn errors of metabolism. Anal. Chem. 2012, 84, 10113-10120. [CrossRef] [PubMed]
-
(2012)
Chem
, vol.84
, pp. 10113-10120
-
-
Denes, J.1
Szabo, E.2
Robinette, S.L.3
Szatmari, I.4
Szonyi, L.5
Kreuder, J.G.6
Rauterberg, E.W.7
Takats, Z.8
-
74
-
-
84973236606
-
NMR-based screening for inborn errors of metabolism: Initial results from a study on turkish neonates
-
[PubMed]
-
Aygen, S.; Durr, U.; Hegele, P.; Kunig, J.; Spraul, M.; Schafer, H.; Krings, D.; Cannet, C.; Fang, F.; Schutz, B. et al. NMR-based screening for inborn errors of metabolism: Initial results from a study on turkish neonates. JIMD Rep. 2014, 16, 101-111. [PubMed]
-
(2014)
JIMD Rep
, vol.16
, pp. 101-111
-
-
Aygen, S.1
Durr, U.2
Hegele, P.3
Kunig, J.4
Spraul, M.5
Schafer, H.6
Krings, D.7
Cannet, C.8
Fang, F.9
Schutz, B.10
-
75
-
-
84945462763
-
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
-
[CrossRef] [PubMed]
-
Miller, M.; Kennedy, A.; Eckhart, A.; Burrage, L.; Wulff, J.; Miller, L.D.; Milburn, M.; Ryals, J.; Beaudet, A.; Sun, Q. et al. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J. Inherit. Metab. Dis. 2015, 38, 1029-1039. [CrossRef] [PubMed]
-
(2015)
J. Inherit. Metab. Dis
, vol.38
, pp. 1029-1039
-
-
Miller, M.1
Kennedy, A.2
Eckhart, A.3
Burrage, L.4
Wulff, J.5
Miller, L.D.6
Milburn, M.7
Ryals, J.8
Beaudet, A.9
Sun, Q.10
-
76
-
-
84979022687
-
Clinical metabolomics: The new metabolic window for inborn errors of metabolism investigations in the post-genomic era
-
[CrossRef] [PubMed]
-
Tebani, A.; Abily-Donval, L.; Afonso, C.; Marret, S.; Bekri, S. Clinical metabolomics: The new metabolic window for inborn errors of metabolism investigations in the post-genomic era. Int. J. Mol. Sci. 2016, 17, 1167. [CrossRef] [PubMed]
-
(2016)
Int. J. Mol. Sci
, vol.1167
, pp. 17
-
-
Tebani, A.1
Abily-Donval, L.2
Afonso, C.3
Marret, S.4
Bekri, S.5
-
77
-
-
78549246207
-
Phenomics: The next challenge
-
[CrossRef] [PubMed]
-
Houle, D.; Govindaraju, D.R.; Omholt, S. Phenomics: The next challenge. Nat. Rev. Genet. 2010, 11, 855-866. [CrossRef] [PubMed]
-
(2010)
Nat. Rev. Genet
, vol.11
, pp. 855-866
-
-
Houle, D.1
Govindaraju, D.R.2
Omholt, S.3
-
78
-
-
70450223891
-
Common disorders are quantitative traits. Nat
-
[CrossRef] [PubMed]
-
Plomin, R.; Haworth, C.M.; Davis, O.S. Common disorders are quantitative traits. Nat. Rev. Genet. 2009, 10, 872-878. [CrossRef] [PubMed]
-
(2009)
Rev. Genet
, vol.10
, pp. 872-878
-
-
Plomin, R.1
Haworth, C.M.2
Davis, O.S.3
-
79
-
-
84958659058
-
Unravelling the human genome-phenome relationship using phenome-wide association studies
-
[CrossRef] [PubMed]
-
Bush, W.S.; Oetjens, M.T.; Crawford, D.C. Unravelling the human genome-phenome relationship using phenome-wide association studies. Nat. Rev. Genet. 2016, 17, 129-145. [CrossRef] [PubMed]
-
(2016)
Nat. Rev. Genet
, vol.17
, pp. 129-145
-
-
Bush, W.S.1
Oetjens, M.T.2
Crawford, D.C.3
-
80
-
-
70349560566
-
Phenomics: The systematic study of phenotypes on a genome-wide scale
-
[CrossRef] [PubMed]
-
Bilder, R.M.; Sabb, F.W.; Cannon, T.D.; London, E.D.; Jentsch, J.D.; Parker, D.S.; Poldrack, R.A.; Evans, C.; Freimer, N.B. Phenomics: The systematic study of phenotypes on a genome-wide scale. Neuroscience 2009, 164, 30-42. [CrossRef] [PubMed]
-
(2009)
Neuroscience
, vol.164
, pp. 30-42
-
-
Bilder, R.M.1
Sabb, F.W.2
Cannon, T.D.3
London, E.D.4
Jentsch, J.D.5
Parker, D.S.6
Poldrack, R.A.7
Evans, C.8
Freimer, N.B.9
-
81
-
-
0038670579
-
The human phenome project
-
[CrossRef] [PubMed]
-
Freimer, N.; Sabatti, C. The human phenome project. Nat. Genet. 2003, 34, 15-21. [CrossRef] [PubMed]
-
(2003)
Nat. Genet
, vol.34
, pp. 15-21
-
-
Freimer, N.1
Sabatti, C.2
-
82
-
-
0036775142
-
Phenomics: Fiction or the future
-
[CrossRef]
-
Gerlai, R. Phenomics: Fiction or the future? Trends Neurosci. 2002, 25, 506-509. [CrossRef]
-
(2002)
Trends Neurosci
, vol.25
, pp. 506-509
-
-
Gerlai, R.1
-
83
-
-
84876318903
-
Getting ready for the human phenome project: The 2012 forum of the human variome project
-
[CrossRef] [PubMed]
-
Oetting W.S.; Robinson, P.N.; Greenblatt, M.S.; Cotton, R.G.; Beck, T.; Carey, J.C.; Doelken, S.C.; Girdea, M.; Groza, T.; Hamilton, C.M. et al. Getting ready for the human phenome project: The 2012 forum of the human variome project. Hum. Mutat. 2013, 34, 661-666. [CrossRef] [PubMed]
-
(2013)
Hum. Mutat
, vol.34
, pp. 661-666
-
-
Oetting, W.S.1
Robinson, P.N.2
Greenblatt, M.S.3
Cotton, R.G.4
Beck, T.5
Carey, J.C.6
Doelken, S.C.7
Girdea, M.8
Groza, T.9
Hamilton, C.M.10
-
84
-
-
84937523757
-
The human phenotype ontology: Semantic unification of common and rare disease
-
[CrossRef] [PubMed]
-
Groza, T.; Kohler, S.; Moldenhauer, D.; Vasilevsky, N.; Baynam, G.; Zemojtel, T.; Schriml, L.M.; Kibbe W.A.; Schofield, P.N.; Beck, T. et al. The human phenotype ontology: Semantic unification of common and rare disease. Am. J. Hum. Genet. 2015, 97, 111-124. [CrossRef] [PubMed]
-
(2015)
Am. J. Hum. Genet
, vol.97
, pp. 111-124
-
-
Groza, T.1
Kohler, S.2
Moldenhauer, D.3
Vasilevsky, N.4
Baynam, G.5
Zemojtel, T.6
Schriml, L.M.7
Kibbe, W.A.8
Schofield, P.N.9
Beck, T.10
-
85
-
-
84925031191
-
Methods of integrating data to uncover genotype-phenotype interactions
-
[CrossRef] [PubMed]
-
Ritchie, M.D.; Holzinger, E.R.; Li, R.; Pendergrass, S.A.; Kim, D. Methods of integrating data to uncover genotype-phenotype interactions. Nat. Rev. Genet. 2015, 16, 85-97. [CrossRef] [PubMed]
-
(2015)
Nat. Rev. Genet
, vol.16
, pp. 85-97
-
-
Ritchie, M.D.1
Holzinger, E.R.2
Li, R.3
Pendergrass, S.A.4
Kim, D.5
-
86
-
-
41649090385
-
“Deep phenotyping”: Characterizing populations in the era of genomics and systems biology
-
[CrossRef] [PubMed]
-
Tracy, R.P. “Deep phenotyping”: Characterizing populations in the era of genomics and systems biology. Curr. Opin. Lipidol. 2008, 19, 151-157. [CrossRef] [PubMed]
-
(2008)
Curr. Opin. Lipidol
, vol.19
, pp. 151-157
-
-
Tracy, R.P.1
-
87
-
-
84962310114
-
Translational bioinformatics in the era of real-time biomedical, health care and wellness data streams
-
[CrossRef] [PubMed]
-
Shameer, K.; Badgeley, M.A.; Miotto, R.; Glicksberg, B.S.; Morgan, J.W.; Dudley, J.T. Translational bioinformatics in the era of real-time biomedical, health care and wellness data streams. Brief. Bioinform. 2016. [CrossRef] [PubMed]
-
(2016)
Brief. Bioinform
-
-
Shameer, K.1
Badgeley, M.A.2
Miotto, R.3
Glicksberg, B.S.4
Morgan, J.W.5
Dudley, J.T.6
-
88
-
-
84954287257
-
Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules
-
[CrossRef] [PubMed]
-
Kochinke, K.; Zweier, C.; Nijhof, B.; Fenckova, M.; Cizek, P.; Honti, F.; Keerthikumar, S.; Oortveld Merel, A.W.; Kleefstra, T.; Kramer, J.M. et al. Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules. Am. J. Hum. Genet. 2016, 98, 149-164. [CrossRef] [PubMed]
-
(2016)
Am. J. Hum. Genet
, vol.98
, pp. 149-164
-
-
Kochinke, K.1
Zweier, C.2
Nijhof, B.3
Fenckova, M.4
Cizek, P.5
Honti, F.6
Keerthikumar, S.7
Oortveld Merel, A.W.8
Kleefstra, T.9
Kramer, J.M.10
-
89
-
-
84947870697
-
Integrative phenotyping framework (IPF): Integrative clustering of multiple omics data identifies novel lung disease subphenotypes
-
[CrossRef] [PubMed]
-
Kim, S.; Herazo-Maya, J.D.; Kang, D.D.; Juan-Guardela, B.M.; Tedrow, J.; Martinez, F.J.; Sciurba, F.C.; Tseng, G.C.; Kaminski, N. Integrative phenotyping framework (iPF): Integrative clustering of multiple omics data identifies novel lung disease subphenotypes. BMC Genom. 2015, 16, 1-11. [CrossRef] [PubMed]
-
(2015)
BMC Genom
, vol.16
, pp. 1-11
-
-
Kim, S.1
Herazo-Maya, J.D.2
Kang, D.D.3
Juan-Guardela, B.M.4
Tedrow, J.5
Martinez, F.J.6
Sciurba, F.C.7
Tseng, G.C.8
Kaminski, N.9
-
90
-
-
84941880519
-
Use of model organism and disease databases to support matchmaking for human disease gene discovery
-
[CrossRef] [PubMed]
-
Mungall, C.J.; Washington, N.L.; Nguyen-Xuan, J.; Condit, C.; Smedley, D.; Kohler, S.; Groza, T.; Shefchek, K.; Hochheiser, H.; Robinson, P.N. et al. Use of model organism and disease databases to support matchmaking for human disease gene discovery. Hum. Mutat. 2015, 36, 979-984. [CrossRef] [PubMed]
-
(2015)
Hum. Mutat
, vol.36
, pp. 979-984
-
-
Mungall, C.J.1
Washington, N.L.2
Nguyen-Xuan, J.3
Condit, C.4
Smedley, D.5
Kohler, S.6
Groza, T.7
Shefchek, K.8
Hochheiser, H.9
Robinson, P.N.10
-
91
-
-
84955254841
-
A next generation multiscale view of inborn errors of metabolism
-
[CrossRef] [PubMed]
-
Argmann, C.A.; Houten, S.M.; Zhu, J.; Schadt, E.E. A next generation multiscale view of inborn errors of metabolism. Cell Metab. 2016, 23, 13-26. [CrossRef] [PubMed]
-
(2016)
Cell Metab
, vol.23
, pp. 13-26
-
-
Argmann, C.A.1
Houten, S.M.2
Zhu, J.3
Schadt, E.E.4
-
92
-
-
84948703087
-
Methods for biological data integration: Perspectives and challenges
-
[CrossRef] [PubMed]
-
Gligorijevic, V.; Przulj, N. Methods for biological data integration: Perspectives and challenges. J. R. Soc. Interface 2015, 12, 112. [CrossRef] [PubMed]
-
(2015)
J. R. Soc. Interface
, vol.12
, pp. 112
-
-
Gligorijevic, V.1
Przulj, N.2
-
93
-
-
84941365835
-
Genomic, proteomic, and metabolomic data integration strategies
-
[PubMed]
-
Wanichthanarak, K.; Fahrmann, J.F.; Grapov, D. Genomic, proteomic, and metabolomic data integration strategies. Biomark. Insights 2015, 10, 1-6. [PubMed]
-
(2015)
Biomark. Insights
, vol.10
, pp. 1-6
-
-
Wanichthanarak, K.1
Fahrmann, J.F.2
Grapov, D.3
-
94
-
-
84928266005
-
Multi-omic signature of body weight change: Results from a population-based cohort study
-
[CrossRef] [PubMed]
-
Wahl, S.; Vogt, S.; Stuckler, F.; Krumsiek, J.; Bartel, J.; Kacprowski, T.; Schramm, K.; Carstensen, M.; Rathmann, W.; Roden, M. et al. Multi-omic signature of body weight change: Results from a population-based cohort study. BMC Med. 2015, 13, 48. [CrossRef] [PubMed]
-
(2015)
BMC Med
, vol.13
, pp. 48
-
-
Wahl, S.1
Vogt, S.2
Stuckler, F.3
Krumsiek, J.4
Bartel, J.5
Kacprowski, T.6
Schramm, K.7
Carstensen, M.8
Rathmann, W.9
Roden, M.10
-
95
-
-
84939795842
-
Topologically inferring pathway activity toward precise cancer classification via integrating genomic and metabolomic data: Prostate cancer as a case
-
[CrossRef] [PubMed]
-
Liu, W.; Bai, X.; Liu, Y.; Wang, W.; Han, J.; Wang, Q.; Xu, Y.; Zhang, C.; Zhang, S.; Li, X. et al. Topologically inferring pathway activity toward precise cancer classification via integrating genomic and metabolomic data: Prostate cancer as a case. Sci. Rep. 2015, 5, 13192. [CrossRef] [PubMed]
-
(2015)
Sci. Rep
, vol.5
, pp. 13192
-
-
Liu, W.1
Bai, X.2
Liu, Y.3
Wang, W.4
Han, J.5
Wang, Q.6
Xu, Y.7
Zhang, C.8
Zhang, S.9
Li, X.10
-
96
-
-
84858433310
-
Personal omics profiling reveals dynamic molecular and medical phenotypes
-
[CrossRef] [PubMed]
-
Chen, R.; Mias, G.I.; Li-Pook-Than, J.; Jiang, L.; Lam, H.Y.K.; Chen, R.; Miriami, E.; Karczewski, K.J.; Hariharan, M.; Dewey, F.E. et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 2012, 148, 1293-1307. [CrossRef] [PubMed]
-
(2012)
Cell
, vol.148
, pp. 1293-1307
-
-
Chen, R.1
Mias, G.I.2
Li-Pook-Than, J.3
Jiang, L.4
Lam, H.Y.K.5
Chen, R.6
Miriami, E.7
Karczewski, K.J.8
Hariharan, M.9
Dewey, F.E.10
-
97
-
-
84937790219
-
The human blood metabolome-transcriptome interface
-
[CrossRef] [PubMed]
-
Bartel, J.; Krumsiek, J.; Schramm, K.; Adamski, J.; Gieger, C.; Herder, C.; Carstensen, M.; Peters, A.; Rathmann, W.; Roden, M. et al. The human blood metabolome-transcriptome interface. PLoS Genet. 2015, 11, e1005274. [CrossRef] [PubMed]
-
(2015)
Plos Genet
, pp. 11
-
-
Bartel, J.1
Krumsiek, J.2
Schramm, K.3
Adamski, J.4
Gieger, C.5
Herder, C.6
Carstensen, M.7
Peters, A.8
Rathmann, W.9
Roden, M.10
-
98
-
-
84901686870
-
An atlas of genetic influences on human blood metabolites
-
[CrossRef] [PubMed]
-
Shin, S.Y.; Fauman, E.B.; Petersen, A.K.; Krumsiek, J.; Santos, R.; Huang, J.; Arnold, M.; Erte, I.; Forgetta, V.; Yang, T.P. et al. An atlas of genetic influences on human blood metabolites. Nat. Genet. 2014, 46, 543-550. [CrossRef] [PubMed]
-
(2014)
Nat. Genet
, vol.46
, pp. 543-550
-
-
Shin, S.Y.1
Fauman, E.B.2
Petersen, A.K.3
Krumsiek, J.4
Santos, R.5
Huang, J.6
Arnold, M.7
Erte, I.8
Forgetta, V.9
Yang, T.P.10
-
99
-
-
84897372328
-
Epigenetics meets metabolomics: An epigenome-wide association study with blood serum metabolic traits
-
[CrossRef] [PubMed]
-
Petersen, A.K.; Zeilinger, S.; Kastenmuller, G.; Romisch-Margl, W.; Brugger, M.; Peters, A.; Meisinger, C.; Strauch, K.; Hengstenberg, C.; Pagel, P. et al. Epigenetics meets metabolomics: An epigenome-wide association study with blood serum metabolic traits. Hum. Mol. Genet. 2014, 23, 534-545. [CrossRef] [PubMed]
-
(2014)
Hum. Mol. Genet
, vol.23
, pp. 534-545
-
-
Petersen, A.K.1
Zeilinger, S.2
Kastenmuller, G.3
Romisch-Margl, W.4
Brugger, M.5
Peters, A.6
Meisinger, C.7
Strauch, K.8
Hengstenberg, C.9
Pagel, P.10
-
100
-
-
82755192534
-
Improving validation practices in “omics” research
-
[CrossRef] [PubMed]
-
Ioannidis, J.P.; Khoury, M.J. Improving validation practices in “omics” research. Science 2011, 334, 1230-1232. [CrossRef] [PubMed]
-
(2011)
Science
, vol.334
, pp. 1230-1232
-
-
Ioannidis, J.P.1
Khoury, M.J.2
-
101
-
-
84893152857
-
Toward more transparent and reproducible omics studies through a common metadata checklist and data publications
-
[CrossRef] [PubMed]
-
Kolker, E.; Ozdemir, V.; Martens, L.; Hancock, W.; Anderson, G.; Anderson, N.; Aynacioglu, S.; Baranova, A.; Campagna, S.R.; Chen, R. et al. Toward more transparent and reproducible omics studies through a common metadata checklist and data publications. Omics 2014, 18, 10-14. [CrossRef] [PubMed]
-
(2014)
Omics
, vol.18
, pp. 10-14
-
-
Kolker, E.1
Ozdemir, V.2
Martens, L.3
Hancock, W.4
Anderson, G.5
Anderson, N.6
Aynacioglu, S.7
Baranova, A.8
Campagna, S.R.9
Chen, R.10
-
102
-
-
84894044313
-
Sea of standards for omics data
-
[CrossRef] [PubMed]
-
Tenenbaum, J.D.; Sansone, S.A.; Haendel, M. A sea of standards for omics data: Sink or swim? JAMIA 2014, 21, 200-203. [CrossRef] [PubMed]
-
(2014)
Sink Or Swim? JAMIA
, vol.21
, pp. 200-203
-
-
Tenenbaum, J.D.1
Sansone, S.A.2
Haendel, M.A.3
-
103
-
-
84966930117
-
Chapter 10—Phenome centers and global harmonization
-
Academic Press: Boston, MA, USA
-
Chitayat, S.; Rudan, J.F. Chapter 10—Phenome centers and global harmonization. In Metabolic Phenotyping in Personalized and Public Healthcare; Academic Press: Boston, MA, USA, 2016; pp. 291-315.
-
(2016)
In Metabolic Phenotyping in Personalized and Public Healthcare
, pp. 291-315
-
-
Chitayat, S.1
Rudan, J.F.2
-
104
-
-
84947561473
-
Data standards can boost metabolomics research, and if there is a will, there is a way
-
[CrossRef] [PubMed]
-
Rocca-Serra, P.; Salek, R.M.; Arita, M.; Correa, E.; Dayalan, S.; Gonzalez-Beltran, A.; Ebbels, T.; Goodacre, R.; Hastings, J.; Haug, K. et al. Data standards can boost metabolomics research, and if there is a will, there is a way. Metabolomics 2016, 12, 14. [CrossRef] [PubMed]
-
(2016)
Metabolomics
, vol.12
, pp. 14
-
-
Rocca-Serra, P.1
Salek, R.M.2
Arita, M.3
Correa, E.4
Dayalan, S.5
Gonzalez-Beltran, A.6
Ebbels, T.7
Goodacre, R.8
Hastings, J.9
Haug, K.10
-
105
-
-
84867341623
-
The importance of experimental design and QC samples in large-scale and MS-driven untargeted metabolomic studies of humans
-
[CrossRef] [PubMed]
-
Dunn, W.B.; Wilson, I.D.; Nicholls, A.W.; Broadhurst, D. The importance of experimental design and QC samples in large-scale and MS-driven untargeted metabolomic studies of humans. Bioanalysis 2012, 4, 2249-2264. [CrossRef] [PubMed]
-
(2012)
Bioanalysis
, vol.4
, pp. 2249-2264
-
-
Dunn, W.B.1
Wilson, I.D.2
Nicholls, A.W.3
Broadhurst, D.4
-
106
-
-
84903728943
-
Qcml: An exchange format for quality control metrics from mass spectrometry experiments
-
[CrossRef] [PubMed]
-
Walzer, M.; Pernas, L.E.; Nasso, S.; Bittremieux, W.; Nahnsen, S.; Kelchtermans, P.; Pichler, P.; van den Toorn, H.W.; Staes, A.; Vandenbussche, J. et al. Qcml: An exchange format for quality control metrics from mass spectrometry experiments. Mol. Cell. Proteom. 2014, 13, 1905-1913. [CrossRef] [PubMed]
-
(2014)
Mol. Cell. Proteom
, vol.13
, pp. 1905-1913
-
-
Walzer, M.1
Pernas, L.E.2
Nasso, S.3
Bittremieux, W.4
Nahnsen, S.5
Kelchtermans, P.6
Pichler, P.7
van Den Toorn, H.W.8
Staes, A.9
Vandenbussche, J.10
-
107
-
-
79954452136
-
Cancer biomarker discovery: Opportunities and pitfalls in analytical methods
-
[CrossRef] [PubMed]
-
Issaq, H.J.; Waybright, T.J.; Veenstra, T.D. Cancer biomarker discovery: Opportunities and pitfalls in analytical methods. Electrophoresis 2011, 32, 967-975. [CrossRef] [PubMed]
-
(2011)
Electrophoresis
, vol.32
, pp. 967-975
-
-
Issaq, H.J.1
Waybright, T.J.2
Veenstra, T.D.3
-
108
-
-
84944279233
-
Constrained randomization and multivariate effect projections improve information extraction and biomarker pattern discovery in metabolomics studies involving dependent samples
-
[CrossRef] [PubMed]
-
Jonsson, P.; Wuolikainen, A.; Thysell, E.; Chorell, E.; Stattin, P.; Wikstrom, P.; Antti, H. Constrained randomization and multivariate effect projections improve information extraction and biomarker pattern discovery in metabolomics studies involving dependent samples. Metabolomics 2015, 11, 1667-1678. [CrossRef] [PubMed]
-
(2015)
Metabolomics
, vol.11
, pp. 1667-1678
-
-
Jonsson, P.1
Wuolikainen, A.2
Thysell, E.3
Chorell, E.4
Stattin, P.5
Wikstrom, P.6
Antti, H.7
-
110
-
-
84987736156
-
Rapid and efficient analysis of 20,000 RNA-Seq samples with toil
-
[CrossRef]
-
Vivian, J.; Rao, A.; Nothaft, F.A.; Ketchum, C.; Armstrong, J.; Novak, A.; Pfeil, J.; Narkizian, J.; Deran, A.D.; Musselman-Brown, A. et al. Rapid and efficient analysis of 20,000 RNA-Seq samples with toil. bioRxiv 2016. [CrossRef]
-
(2016)
Biorxiv
-
-
Vivian, J.1
Rao, A.2
Nothaft, F.A.3
Ketchum, C.4
Armstrong, J.5
Novak, A.6
Pfeil, J.7
Narkizian, J.8
Deran, A.D.9
Musselman-Brown, A.10
-
111
-
-
84939129835
-
Extending reference assembly models
-
[CrossRef] [PubMed]
-
Church, D.M.; Schneider, V.A.; Steinberg, K.M.; Schatz, M.C.; Quinlan, A.R.; Chin, C.-S.; Kitts, P.A.; Aken, B.; Marth, G.T.; Hoffman, M.M. et al. Extending reference assembly models. Genome Biol. 2015, 16, 1-5. [CrossRef] [PubMed]
-
(2015)
Genome Biol
, vol.16
, pp. 1-5
-
-
Church, D.M.1
Schneider, V.A.2
Steinberg, K.M.3
Schatz, M.C.4
Quinlan, A.R.5
Chin, C.-S.6
Kitts, P.A.7
Aken, B.8
Marth, G.T.9
Hoffman, M.M.10
-
112
-
-
84959324684
-
Medical implications of technical accuracy in genome sequencing
-
[CrossRef] [PubMed]
-
Goldfeder, R.L.; Priest, J.R.; Zook, J.M.; Grove, M.E.; Waggott, D.; Wheeler, M.T.; Salit, M.; Ashley, E.A. Medical implications of technical accuracy in genome sequencing. Genome Med. 2016, 8, 24. [CrossRef] [PubMed]
-
(2016)
Genome Med
, vol.8
, pp. 24
-
-
Goldfeder, R.L.1
Priest, J.R.2
Zook, J.M.3
Grove, M.E.4
Waggott, D.5
Wheeler, M.T.6
Salit, M.7
Ashley, E.A.8
-
113
-
-
79951810290
-
The importance of phase information for human genomics
-
[CrossRef] [PubMed]
-
Tewhey, R.; Bansal, V.; Torkamani, A.; Topol, E.J.; Schork, N.J. The importance of phase information for human genomics. Nat. Rev. Genet. 2011, 12, 215-223. [CrossRef] [PubMed]
-
(2011)
Nat. Rev. Genet
, vol.12
, pp. 215-223
-
-
Tewhey, R.1
Bansal, V.2
Torkamani, A.3
Topol, E.J.4
Schork, N.J.5
-
114
-
-
84960894307
-
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
-
[CrossRef] [PubMed]
-
Zheng, G.X.; Lau, B.T.; Schnall-Levin, M.; Jarosz, M.; Bell, J.M.; Hindson, C.M.; Kyriazopoulou-Panagiotopoulou, S.; Masquelier, D.A.; Merrill, L.; Terry, J.M. et al. Haplotyping germline and cancer genomes with high-throughput linked-read sequencing. Nat. Biotechnol. 2016, 34, 303-311. [CrossRef] [PubMed]
-
(2016)
Nat. Biotechnol
, vol.34
, pp. 303-311
-
-
Zheng, G.X.1
Lau, B.T.2
Schnall-Levin, M.3
Jarosz, M.4
Bell, J.M.5
Hindson, C.M.6
Kyriazopoulou-Panagiotopoulou, S.7
Masquelier, D.A.8
Merrill, L.9
Terry, J.M.10
-
115
-
-
84925497196
-
Resolving the complexity of the human genome using single-molecule sequencing
-
[CrossRef] [PubMed]
-
Chaisson, M.J.; Huddleston, J.; Dennis, M.Y.; Sudmant, P.H.; Malig, M.; Hormozdiari, F.; Antonacci, F.; Surti, U.; Sandstrom, R.; Boitano, M. Resolving the complexity of the human genome using single-molecule sequencing. Nature 2015, 517, 608-611. [CrossRef] [PubMed]
-
(2015)
Nature
, vol.517
, pp. 608-611
-
-
Chaisson, M.J.1
Huddleston, J.2
Dennis, M.Y.3
Sudmant, P.H.4
Malig, M.5
Hormozdiari, F.6
Antonacci, F.7
Surti, U.8
Sandstrom, R.9
Boitano, M.10
-
116
-
-
39349101217
-
Improved fabrication of zero-mode waveguides for single-molecule detection
-
[CrossRef]
-
Foquet, M.; Samiee, K.T.; Kong, X.; Chauduri, B.P.; Lundquist, P.M.; Turner, S.W.; Freudenthal, J.; Roitman, D.B. Improved fabrication of zero-mode waveguides for single-molecule detection. J. Appl. Phys. 2008, 103, 034301. [CrossRef]
-
(2008)
J. Appl. Phys
, pp. 103
-
-
Foquet, M.1
Samiee, K.T.2
Kong, X.3
Chauduri, B.P.4
Lundquist, P.M.5
Turner, S.W.6
Freudenthal, J.7
Roitman, D.B.8
-
117
-
-
64449088698
-
Continuous base identification for single-molecule nanopore DNA sequencing
-
[CrossRef] [PubMed]
-
Clarke, J.; Wu, H.-C.; Jayasinghe, L.; Patel, A.; Reid, S.; Bayley, H. Continuous base identification for single-molecule nanopore DNA sequencing. Nat. Nanotechnol. 2009, 4, 265-270. [CrossRef] [PubMed]
-
(2009)
Nat. Nanotechnol
, vol.4
, pp. 265-270
-
-
Clarke, J.1
Wu, H.-C.2
Jayasinghe, L.3
Patel, A.4
Reid, S.5
Bayley, H.6
-
118
-
-
84957096258
-
Mass spectral databases for LC/MS-and GC/MS-based metabolomics: State of the field and future prospects
-
[CrossRef]
-
Vinaixa, M.; Schymanski, E.L.; Neumann, S.; Navarro, M.; Salek, R.M.; Yanes, O. Mass spectral databases for LC/MS-and GC/MS-based metabolomics: State of the field and future prospects. TrAC Trends Anal. Chem. 2016, 78, 23-35. [CrossRef]
-
(2016)
Trac Trends Anal. Chem
, vol.78
, pp. 23-35
-
-
Vinaixa, M.1
Schymanski, E.L.2
Neumann, S.3
Navarro, M.4
Salek, R.M.5
Yanes, O.6
-
119
-
-
84879879014
-
Variation and genetic control of protein abundance in humans
-
[CrossRef] [PubMed]
-
Wu, L.; Candille, S.I.; Choi, Y.; Xie, D.; Jiang, L.; Li-Pook-Than, J.; Tang, H.; Snyder, M. Variation and genetic control of protein abundance in humans. Nature 2013, 499, 79-82. [CrossRef] [PubMed]
-
(2013)
Nature
, vol.499
, pp. 79-82
-
-
Wu, L.1
Candille, S.I.2
Choi, Y.3
Xie, D.4
Jiang, L.5
Li-Pook-Than, J.6
Tang, H.7
Snyder, M.8
-
120
-
-
84858439862
-
Insights into the regulation of protein abundance from proteomic and transcriptomic analyses
-
[CrossRef] [PubMed]
-
Vogel, C.; Marcotte, E.M. Insights into the regulation of protein abundance from proteomic and transcriptomic analyses. Nat. Rev. Genet. 2012, 13, 227-232. [CrossRef] [PubMed]
-
(2012)
Nat. Rev. Genet
, vol.13
, pp. 227-232
-
-
Vogel, C.1
Marcotte, E.M.2
-
121
-
-
85012822290
-
Computational quality control tools for mass spectrometry proteomics
-
[CrossRef] [PubMed]
-
Bittremieux, W.; Valkenborg, D.; Martens, L.; Laukens, K. Computational quality control tools for mass spectrometry proteomics. Proteomics 2016. [CrossRef] [PubMed]
-
(2016)
Proteomics
-
-
Bittremieux, W.1
Valkenborg, D.2
Martens, L.3
Laukens, K.4
-
122
-
-
84994589431
-
Human proteome project mass spectrometry data interpretation guidelines 2.1
-
[CrossRef] [PubMed]
-
Deutsch, E.W.; Overall, C.M.; van Eyk, J.E.; Baker, M.S.; Paik, Y.-K.; Weintraub, S.T.; Lane, L.; Martens, L.; Vandenbrouck, Y.; Kusebauch, U. et al. Human proteome project mass spectrometry data interpretation guidelines 2.1. J. Proteome Res. 2016. [CrossRef] [PubMed]
-
(2016)
J. Proteome Res
-
-
Deutsch, E.W.1
Overall, C.M.2
van Eyk, J.E.3
Baker, M.S.4
Paik, Y.-K.5
Weintraub, S.T.6
Lane, L.7
Martens, L.8
Vandenbrouck, Y.9
Kusebauch, U.10
-
123
-
-
76649109590
-
An automated and multiplexed method for high throughput peptide immunoaffinity enrichment and multiple reaction monitoring mass spectrometry-based quantification of protein biomarkers
-
[CrossRef] [PubMed]
-
Whiteaker, J.R.; Zhao, L.; Anderson, L.; Paulovich, A.G. An automated and multiplexed method for high throughput peptide immunoaffinity enrichment and multiple reaction monitoring mass spectrometry-based quantification of protein biomarkers. Mol. Cell. Proteom. 2010, 9, 184-196. [CrossRef] [PubMed]
-
(2010)
Mol. Cell. Proteom
, vol.9
, pp. 184-196
-
-
Whiteaker, J.R.1
Zhao, L.2
Anderson, L.3
Paulovich, A.G.4
-
124
-
-
84915822559
-
Four areas of engagement requiring strengthening in modern proteomics today
-
[CrossRef] [PubMed]
-
Fehniger, T.E.; Boja, E.S.; Rodriguez, H.; Baker, M.S.; Marko-Varga, G. Four areas of engagement requiring strengthening in modern proteomics today. J. Proteome Res. 2014, 13, 5310-5318. [CrossRef] [PubMed]
-
(2014)
J. Proteome Res
, vol.13
, pp. 5310-5318
-
-
Fehniger, T.E.1
Boja, E.S.2
Rodriguez, H.3
Baker, M.S.4
Marko-Varga, G.5
-
125
-
-
84899529765
-
Evaluation and comparison of multiple aligners for next-generation sequencing data analysis
-
[CrossRef] [PubMed]
-
Shang, J.; Zhu, F.; Vongsangnak W.; Tang, Y.; Zhang W.; Shen, B. Evaluation and comparison of multiple aligners for next-generation sequencing data analysis. BioMed Res. Int. 2014, 2014, 309650. [CrossRef] [PubMed]
-
(2014)
Biomed Res. Int. 2014
, vol.309650
-
-
Shang, J.1
Zhu, F.2
Vongsangnak, W.3
Tang, Y.4
Zhang, W.5
Shen, B.6
-
126
-
-
84896448861
-
Survey of tools for variant analysis of next-generation genome sequencing data
-
[CrossRef] [PubMed]
-
Pabinger, S.; Dander, A.; Fischer, M.; Snajder, R.; Sperk, M.; Efremova, M.; Krabichler, B.; Speicher, M.R.; Zschocke, J.; Trajanoski, Z. A survey of tools for variant analysis of next-generation genome sequencing data. Brief. Bioinform. 2014, 15, 256-278. [CrossRef] [PubMed]
-
(2014)
Brief. Bioinform
, vol.15
, pp. 256-278
-
-
Pabinger, S.1
Dander, A.2
Fischer, M.3
Snajder, R.4
Sperk, M.5
Efremova, M.6
Krabichler, B.7
Speicher, M.R.8
Zschocke, J.9
Trajanoski, Z.A.10
-
127
-
-
84876078233
-
Atlas2 cloud: A framework for personal genome analysis in the cloud
-
[CrossRef] [PubMed]
-
Evani, U.S.; Challis, D.; Yu, J.; Jackson, A.R.; Paithankar, S.; Bainbridge, M.N.; Jakkamsetti, A.; Pham, P.; Coarfa, C.; Milosavljevic, A. Atlas2 cloud: A framework for personal genome analysis in the cloud. BMC Genom. 2012, 13, S19. [CrossRef] [PubMed]
-
(2012)
BMC Genom
, vol.13
, pp. 19
-
-
Evani, U.S.1
Challis, D.2
Yu, J.3
Jackson, A.R.4
Paithankar, S.5
Bainbridge, M.N.6
Jakkamsetti, A.7
Pham, P.8
Coarfa, C.9
Milosavljevic, A.10
-
128
-
-
84874025843
-
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
-
[CrossRef] [PubMed]
-
Cibulskis, K.; Lawrence, M.S.; Carter, S.L.; Sivachenko, A.; Jaffe, D.; Sougnez, C.; Gabriel, S.; Meyerson, M.; Lander, E.S.; Getz, G. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat. Biotechnol. 2013, 31, 213-219. [CrossRef] [PubMed]
-
(2013)
Nat. Biotechnol
, vol.31
, pp. 213-219
-
-
Cibulskis, K.1
Lawrence, M.S.2
Carter, S.L.3
Sivachenko, A.4
Jaffe, D.5
Sougnez, C.6
Gabriel, S.7
Meyerson, M.8
Lander, E.S.9
Getz, G.10
-
129
-
-
84863229597
-
Varscan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
[CrossRef] [PubMed]
-
Koboldt, D.C.; Zhang, Q.; Larson, D.E.; Shen, D.; McLellan, M.D.; Lin, L.; Miller, C.A.; Mardis, E.R.; Ding, L.; Wilson, R.K. Varscan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012, 22, 568-576. [CrossRef] [PubMed]
-
(2012)
Genome Res
, vol.22
, pp. 568-576
-
-
Koboldt, D.C.1
Zhang, Q.2
Larson, D.E.3
Shen, D.4
McLellan, M.D.5
Lin, L.6
Miller, C.A.7
Mardis, E.R.8
Ding, L.9
Wilson, R.K.10
-
130
-
-
77956295988
-
The genome analysis toolkit: A mapreduce framework for analyzing next-generation DNA sequencing data
-
[CrossRef] [PubMed]
-
McKenna, A.; Hanna, M.; Banks, E.; Sivachenko, A.; Cibulskis, K.; Kernytsky, A.; Garimella, K.; Altshuler, D.; Gabriel, S.; Daly, M. The genome analysis toolkit: A mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010, 20, 1297-1303. [CrossRef] [PubMed]
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
-
131
-
-
84890326219
-
Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data
-
[CrossRef] [PubMed]
-
Spencer, D.H.; Tyagi, M.; Vallania, F.; Bredemeyer, A.J.; Pfeifer, J.D.; Mitra, R.D.; Duncavage, E.J. Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data. J. Mol. Diagn. 2014, 16, 75-88. [CrossRef] [PubMed]
-
(2014)
J. Mol. Diagn
, vol.16
, pp. 75-88
-
-
Spencer, D.H.1
Tyagi, M.2
Vallania, F.3
Bredemeyer, A.J.4
Pfeifer, J.D.5
Mitra, R.D.6
Duncavage, E.J.7
-
132
-
-
84982187833
-
Genetic misdiagnoses and the potential for health disparities
-
[CrossRef] [PubMed]
-
Manrai, A.K.; Funke, B.H.; Rehm, H.L.; Olesen, M.S.; Maron, B.A.; Szolovits, P.; Margulies, D.M.; Loscalzo, J.; Kohane, I.S. Genetic misdiagnoses and the potential for health disparities. N. Engl. J. Med. 2016, 375, 655-665. [CrossRef] [PubMed]
-
(2016)
N. Engl. J. Med
, vol.375
, pp. 655-665
-
-
Manrai, A.K.1
Funke, B.H.2
Rehm, H.L.3
Olesen, M.S.4
Maron, B.A.5
Szolovits, P.6
Margulies, D.M.7
Loscalzo, J.8
Kohane, I.S.9
-
133
-
-
84876783779
-
Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics
-
[PubMed]
-
Gullapalli, R.R.; Desai, K.V.; Santana-Santos, L.; Kant, J.A.; Becich, M.J. Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics. J. Pathol. Inform. 2012, 3, 40. [PubMed]
-
(2012)
J. Pathol. Inform
, vol.3
, pp. 40
-
-
Gullapalli, R.R.1
Desai, K.V.2
Santana-Santos, L.3
Kant, J.A.4
Becich, M.J.5
-
134
-
-
84870721324
-
File formats commonly used in mass spectrometry proteomics
-
[CrossRef] [PubMed]
-
Deutsch, E.W. File formats commonly used in mass spectrometry proteomics. Mol. Cell. Proteom. 2012, 11, 1612-1621. [CrossRef] [PubMed]
-
(2012)
Mol. Cell. Proteom
, vol.11
, pp. 1612-1621
-
-
Deutsch, E.W.1
-
135
-
-
84952863976
-
Updates in metabolomics tools and resources: 2014-2015
-
[CrossRef] [PubMed]
-
Misra, B.B.; van der Hooft, J.J. Updates in metabolomics tools and resources: 2014-2015. Electrophoresis 2016, 37, 86-110. [CrossRef] [PubMed]
-
(2016)
Electrophoresis
, vol.37
, pp. 86-110
-
-
Misra, B.B.1
van Der Hooft, J.J.2
-
136
-
-
84954514287
-
Spectrum of views on clinical mass spectrometry
-
[CrossRef] [PubMed]
-
Annesley, T.; Diamandis, E.; Bachmann, L.; Hanash, S.; Hart, B.; Javahery, R.; Singh, R.; Smith, R. A spectrum of views on clinical mass spectrometry. Clin. Chem. 2016, 62, 30-36. [CrossRef] [PubMed]
-
(2016)
Clin. Chem
, vol.62
, pp. 30-36
-
-
Annesley, T.1
Diamandis, E.2
Bachmann, L.3
Hanash, S.4
Hart, B.5
Javahery, R.6
Singh, R.7
Smith, R.A.8
-
137
-
-
84954509878
-
US food and drug administration perspectives on clinical mass spectrometry
-
[CrossRef] [PubMed]
-
Lathrop, J.T.; Jeffery, D.A.; Shea, Y.R.; Scholl, P.F.; Chan, M.M. US food and drug administration perspectives on clinical mass spectrometry. Clin. Chem. 2016, 62, 41-47. [CrossRef] [PubMed]
-
(2016)
Clin. Chem
, vol.62
, pp. 41-47
-
-
Lathrop, J.T.1
Jeffery, D.A.2
Shea, Y.R.3
Scholl, P.F.4
Chan, M.M.5
-
138
-
-
84967214575
-
-
Academic Press: Boston, MA, USA
-
Levin, N.; Salek, R.M.; Steinbeck, C. Chapter 11—From databases to big data. In Metabolic Phenotyping in Personalized and Public Healthcare; Academic Press: Boston, MA, USA, 2016; pp. 317-331.
-
(2016)
Chapter 11—From Databases to Big Data. in Metabolic Phenotyping in Personalized and Public Healthcare
, pp. 317-331
-
-
Levin, N.1
Salek, R.M.2
Steinbeck, C.3
-
139
-
-
84929001104
-
The genotype-tissue expression (GTEX) pilot analysis: Multitissue gene regulation in humans
-
GTEx Consortium. The genotype-tissue expression (GTEX) pilot analysis: Multitissue gene regulation in humans. Science 2015, 348, 648-660.
-
(2015)
Science
, vol.348
, pp. 648-660
-
-
-
140
-
-
84939176331
-
Multi-organ contribution to the metabolic plasma profile using hierarchical modelling
-
[CrossRef] [PubMed]
-
Torell, F.; Bennett, K.; Cereghini, S.; Rannar, S.; Lundstedt-Enkel, K.; Moritz, T.; Haumaitre, C.; Trygg, J.; Lundstedt, T. Multi-organ contribution to the metabolic plasma profile using hierarchical modelling. PLoS ONE 2015, 10, e0129260. [CrossRef] [PubMed]
-
(2015)
Plos ONE
, pp. 10
-
-
Torell, F.1
Bennett, K.2
Cereghini, S.3
Rannar, S.4
Lundstedt-Enkel, K.5
Moritz, T.6
Haumaitre, C.7
Trygg, J.8
Lundstedt, T.9
-
141
-
-
84922675982
-
-
Network-based approach for analyzing intra-and interfluid metabolite associations in human blood, urine, and saliva, [CrossRef] [PubMed]
-
Do, K.T.; Kastenmüller, G.; Mook-Kanamori, D.O.; Yousri, N.A.; Theis, F.J.; Suhre, K.; Krumsiek, J. Network-based approach for analyzing intra-and interfluid metabolite associations in human blood, urine, and saliva. J. Proteome Res. 2015, 14, 1183-1194. [CrossRef] [PubMed]
-
(2015)
J. Proteome Res
, vol.14
, pp. 1183-1194
-
-
Do, K.T.1
Kastenmüller, G.2
Mook-Kanamori, D.O.3
Yousri, N.A.4
Theis, F.J.5
Suhre, K.6
Krumsiek, J.7
-
142
-
-
84964747508
-
An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies
-
[CrossRef] [PubMed]
-
McGregor, K.; Bernatsky, S.; Colmegna, I.; Hudson, M.; Pastinen, T.; Labbe, A.; Greenwood, C.M.T. An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies. Genome Biol. 2016, 17, 1-17. [CrossRef] [PubMed]
-
(2016)
Genome Biol
, vol.17
, pp. 1-17
-
-
McGregor, K.1
Bernatsky, S.2
Colmegna, I.3
Hudson, M.4
Pastinen, T.5
Labbe, A.6
Greenwood, C.M.T.7
-
143
-
-
84923292191
-
Computational analysis of cell-to-cell heterogeneity in single-cell RNA-Sequencing data reveals hidden subpopulations of cells. Nat
-
[CrossRef] [PubMed]
-
Buettner, F.; Natarajan, K.N.; Casale, F.P.; Proserpio, V.; Scialdone, A.; Theis, F.J.; Teichmann, S.A.; Marioni, J.C.; Stegle, O. Computational analysis of cell-to-cell heterogeneity in single-cell RNA-Sequencing data reveals hidden subpopulations of cells. Nat. Biotechnol. 2015, 33, 155-160. [CrossRef] [PubMed]
-
(2015)
Biotechnol
, vol.33
, pp. 155-160
-
-
Buettner, F.1
Natarajan, K.N.2
Casale, F.P.3
Proserpio, V.4
Scialdone, A.5
Theis, F.J.6
Teichmann, S.A.7
Marioni, J.C.8
Stegle, O.9
-
144
-
-
84900824657
-
Reference-free cell mixture adjustments in analysis of DNA methylation data
-
[CrossRef] [PubMed]
-
Houseman, E.A.; Molitor, J.; Marsit, C.J. Reference-free cell mixture adjustments in analysis of DNA methylation data. Bioinformatics 2014, 30, 1431-1439. [CrossRef] [PubMed]
-
(2014)
Bioinformatics
, vol.30
, pp. 1431-1439
-
-
Houseman, E.A.1
Molitor, J.2
Marsit, C.J.3
-
145
-
-
84969504939
-
Multi-omics of single cells: Strategies and applications
-
[CrossRef] [PubMed]
-
Bock, C.; Farlik, M.; Sheffield, N.C. Multi-omics of single cells: Strategies and applications. Trends Biotechnol. 2016, 34, 605-608. [CrossRef] [PubMed]
-
(2016)
Trends Biotechnol
, vol.34
, pp. 605-608
-
-
Bock, C.1
Farlik, M.2
Sheffield, N.C.3
-
146
-
-
0035100888
-
Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework
-
Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework. Clin. Pharmacol. Ther. 2001, 69, 89-95.
-
(2001)
Clin. Pharmacol. Ther
, vol.69
, pp. 89-95
-
-
-
148
-
-
84861618843
-
-
National Academies Press: Washington, DC, USA
-
Micheel, C.M.; Nass, S.J.; Omenn, G.S. Evolution of Translational Omics: Lessons Learned and the Path Forward; National Academies Press: Washington, DC, USA, 2012.
-
(2012)
Evolution of Translational Omics: Lessons Learned and the Path Forward
-
-
Micheel, C.M.1
Nass, S.J.2
Omenn, G.S.3
-
149
-
-
55849092248
-
Translational medicine perspectives of biomarkers in drug discovery and development
-
Feuerstein, G.; Dormer, C.; Ruffolo, R.; Stiles, G.; Walsh, F.; Rutkowski, J. Translational medicine perspectives of biomarkers in drug discovery and development. Part I. Target selection and validation-biomarkers take center stage. Int. Drug Discov. 2007, 2, 36-43.
-
(2007)
Part I. Target Selection and Validation-Biomarkers Take Center Stage. Int. Drug Discov
, vol.2
, pp. 36-43
-
-
Feuerstein, G.1
Dormer, C.2
Ruffolo, R.3
Stiles, G.4
Walsh, F.5
Rutkowski, J.6
-
150
-
-
84856441294
-
What is the difference between “predictive and prognostic biomarkers
-
Brünner, N. What is the difference between “predictive and prognostic biomarkers”? Can you give some examples. Connection 2009, 13, 18.
-
(2009)
Can You Give Some Examples. Connection
, vol.13
, pp. 18
-
-
Brünner, N.1
-
151
-
-
0038004636
-
Clinical biomarkers in drug discovery and development
-
[CrossRef] [PubMed]
-
Frank, R.; Hargreaves, R. Clinical biomarkers in drug discovery and development. Nat. Rev. Drug Discov. 2003, 2, 566-580. [CrossRef] [PubMed]
-
(2003)
Nat. Rev. Drug Discov
, vol.2
, pp. 566-580
-
-
Frank, R.1
Hargreaves, R.2
-
152
-
-
84886260427
-
From biomarkers to medical tests: The changing landscape of test evaluation
-
[CrossRef] [PubMed]
-
Horvath, A.R.; Lord, S.J.; StJohn, A.; Sandberg, S.; Cobbaert, C.M.; Lorenz, S.; Monaghan, P.J.; Verhagen-Kamerbeek W.D.J.; Ebert, C.; Bossuyt, P.M.M. From biomarkers to medical tests: The changing landscape of test evaluation. Clin. Chim. Acta 2014, 427, 49-57. [CrossRef] [PubMed]
-
(2014)
Clin. Chim. Acta
, vol.427
, pp. 49-57
-
-
Horvath, A.R.1
Lord, S.J.2
Stjohn, A.3
Sandberg, S.4
Cobbaert, C.M.5
Lorenz, S.6
Monaghan, P.J.7
Verhagen-Kamerbeek, W.D.J.8
Ebert, C.9
Bossuyt, P.10
-
153
-
-
0001710505
-
Analysis of a complex of statistical variables into principal components
-
[CrossRef]
-
Hotelling, H. Analysis of a complex of statistical variables into principal components. J. Educ. Psychol. 1933, 24, 417. [CrossRef]
-
(1933)
J. Educ. Psychol
, vol.24
, pp. 417
-
-
Hotelling, H.1
-
154
-
-
84879467778
-
Independent components analysis with the jade algorithm
-
[CrossRef]
-
Rutledge, D.N.; Bouveresse, D.J.-R. Independent components analysis with the jade algorithm. TrAC Trends Anal. Chem. 2013, 50, 22-32. [CrossRef]
-
(2013)
Trac Trends Anal. Chem
, vol.50
, pp. 22-32
-
-
Rutledge, D.N.1
Bouveresse, D.J.2
-
155
-
-
0001138328
-
Algorithm as 136: A k-means clustering algorithm
-
[CrossRef]
-
Hartigan, J.A.; Wong, M.A. Algorithm as 136: A k-means clustering algorithm. J. R. Stat. Soc. Ser. C 1979, 28, 100-108. [CrossRef]
-
(1979)
J. R. Stat. Soc. Ser. C
, vol.28
, pp. 100-108
-
-
Hartigan, J.A.1
Wong, M.A.2
-
156
-
-
0014129195
-
Hierarchical clustering schemes
-
[CrossRef] [PubMed]
-
Johnson, S.C. Hierarchical clustering schemes. Psychometrika 1967, 32, 241-254. [CrossRef] [PubMed]
-
(1967)
Psychometrika
, vol.32
, pp. 241-254
-
-
Johnson, S.C.1
-
157
-
-
0025489075
-
The self-organizing map
-
[CrossRef]
-
Kohonen, T. The self-organizing map. Proc. IEEE 1990, 78, 1464-1480. [CrossRef]
-
(1990)
Proc. IEEE
, vol.78
, pp. 1464-1480
-
-
Kohonen, T.1
-
158
-
-
0035965476
-
Pls-regression: A basic tool of chemometrics
-
[CrossRef]
-
Wold, S.; Sjöström, M.; Eriksson, L. Pls-regression: A basic tool of chemometrics. Chemom. Intell. Lab. Syst. 2001, 58, 109-130. [CrossRef]
-
(2001)
Chemom. Intell. Lab. Syst
, vol.58
, pp. 109-130
-
-
Wold, S.1
Sjöström, M.2
Eriksson, L.3
-
159
-
-
0036083139
-
Orthogonal projections to latent structures (O-PLS)
-
[CrossRef]
-
Trygg, J.; Wold, S. Orthogonal projections to latent structures (O-PLS). J. Chemom. 2002, 16, 119-128. [CrossRef]
-
(2002)
J. Chemom
, vol.16
, pp. 119-128
-
-
Trygg, J.1
Wold, S.2
-
160
-
-
34249753618
-
Support-vector networks
-
[CrossRef]
-
Cortes, C.; Vapnik, V. Support-vector networks. Mach. Learn. 1995, 20, 273-297. [CrossRef]
-
(1995)
Mach. Learn
, vol.20
, pp. 273-297
-
-
Cortes, C.1
Vapnik, V.2
-
161
-
-
84885757481
-
Criteria for the use of omics-based predictors in clinical trials
-
[CrossRef] [PubMed]
-
McShane, L.M.; Cavenagh, M.M.; Lively, T.G.; Eberhard, D.A.; Bigbee, W.L.; Williams, P.M.; Mesirov, J.P.; Polley, M.-Y.C.; Kim, K.Y.; Tricoli, J.V. et al. Criteria for the use of omics-based predictors in clinical trials. Nature 2013, 502, 317-320. [CrossRef] [PubMed]
-
(2013)
Nature
, vol.502
, pp. 317-320
-
-
McShane, L.M.1
Cavenagh, M.M.2
Lively, T.G.3
Eberhard, D.A.4
Bigbee, W.L.5
Williams, P.M.6
Mesirov, J.P.7
Polley, M.-Y.C.8
Kim, K.Y.9
Tricoli, J.V.10
-
162
-
-
84987718199
-
Integration and visualization of translational medicine data for better understanding of human diseases
-
[CrossRef] [PubMed]
-
Satagopam, V.; Gu, W.; Eifes, S.; Gawron, P.; Ostaszewski, M.; Gebel, S.; Barbosa-Silva, A.; Balling, R.; Schneider, R. Integration and visualization of translational medicine data for better understanding of human diseases. Big Data 2016, 4, 97-108. [CrossRef] [PubMed]
-
(2016)
Big Data
, vol.4
, pp. 97-108
-
-
Satagopam, V.1
Gu, W.2
Eifes, S.3
Gawron, P.4
Ostaszewski, M.5
Gebel, S.6
Barbosa-Silva, A.7
Balling, R.8
Schneider, R.9
-
163
-
-
84957426178
-
Topological data analysis: A promising big data exploration tool in biology, analytical chemistry and physical chemistry
-
[CrossRef] [PubMed]
-
Offroy, M.; Duponchel, L. Topological data analysis: A promising big data exploration tool in biology, analytical chemistry and physical chemistry. Anal. Chim. Acta 2016, 910, 1-11. [CrossRef] [PubMed]
-
(2016)
Anal. Chim. Acta
, vol.910
, pp. 1-11
-
-
Offroy, M.1
Duponchel, L.2
-
164
-
-
84873637974
-
Extracting insights from the shape of complex data using topology
-
[CrossRef] [PubMed]
-
Lum, P.; Singh, G.; Lehman, A.; Ishkanov, T.; Vejdemo-Johansson, M.; Alagappan, M.; Carlsson, J.; Carlsson, G. Extracting insights from the shape of complex data using topology. Sci. Rep. 2013, 3, 1236. [CrossRef] [PubMed]
-
(2013)
Sci. Rep
, vol.3
, pp. 1236
-
-
Lum, P.1
Singh, G.2
Lehman, A.3
Ishkanov, T.4
Vejdemo-Johansson, M.5
Alagappan, M.6
Carlsson, J.7
Carlsson, G.8
-
165
-
-
70049091784
-
Topology and data
-
[CrossRef]
-
Carlsson, G. Topology and data. Bull. Am. Math. Soc. 2009, 46, 255-308. [CrossRef]
-
(2009)
Bull. Am. Math. Soc
, vol.46
, pp. 255-308
-
-
Carlsson, G.1
-
166
-
-
84945197673
-
Topological data analysis for discovery in preclinical spinal cord injury and traumatic brain injury
-
[CrossRef] [PubMed]
-
Nielson, J.L.; Paquette, J.; Liu, A.W.; Guandique, C.F.; Tovar, C.A.; Inoue, T.; Irvine, K.-A.; Gensel, J.C.; Kloke, J.; Petrossian, T.C. et al. Topological data analysis for discovery in preclinical spinal cord injury and traumatic brain injury. Nat. Commun. 2015, 6, 8581. [CrossRef] [PubMed]
-
(2015)
Nat. Commun
, vol.6
, pp. 8581
-
-
Nielson, J.L.1
Paquette, J.2
Liu, A.W.3
Guandique, C.F.4
Tovar, C.A.5
Inoue, T.6
Irvine, K.-A.7
Gensel, J.C.8
Kloke, J.9
Petrossian, T.C.10
-
167
-
-
84938360711
-
Computational tools for parsimony phylogenetic analysis of omics data
-
[CrossRef] [PubMed]
-
Salazar, J.; Amri, H.; Noursi, D.; Abu-Asab, M. Computational tools for parsimony phylogenetic analysis of omics data. Omics J. Integr. Biol. 2015, 19, 471-477. [CrossRef] [PubMed]
-
(2015)
Omics J. Integr. Biol
, vol.19
, pp. 471-477
-
-
Salazar, J.1
Amri, H.2
Noursi, D.3
Abu-Asab, M.4
-
168
-
-
84954408826
-
Unmet needs: Research helps regulators do their jobs
-
315ps22[CrossRef] [PubMed]
-
Altman, R.B.; Khuri, N.; Salit, M.; Giacomini, K.M. Unmet needs: Research helps regulators do their jobs. Sci. Transl. Med. 2015, 7, 315ps22. [CrossRef] [PubMed]
-
(2015)
Sci. Transl. Med
, vol.7
-
-
Altman, R.B.1
Khuri, N.2
Salit, M.3
Giacomini, K.M.4
-
169
-
-
84969219444
-
The need for global regulatory harmonization: A public health imperative
-
338ed6[CrossRef] [PubMed]
-
Zerhouni, E.; Hamburg, M. The need for global regulatory harmonization: A public health imperative. Sci. Transl. Med. 2016, 8, 338ed6. [CrossRef] [PubMed]
-
(2016)
Sci. Transl. Med
, vol.8
-
-
Zerhouni, E.1
Hamburg, M.2
-
170
-
-
84964313265
-
A community assessment of privacy preserving techniques for human genomes
-
[CrossRef] [PubMed]
-
Jiang, X.; Zhao, Y.; Wang, X.; Malin, B.; Wang, S.; Ohno-Machado, L.; Tang, H. A community assessment of privacy preserving techniques for human genomes. BMC Med. Inform. Decis. Mak. 2014, 14, 1-10. [CrossRef] [PubMed]
-
(2014)
BMC Med. Inform. Decis. Mak
, vol.14
, pp. 1-10
-
-
Jiang, X.1
Zhao, Y.2
Wang, X.3
Malin, B.4
Wang, S.5
Ohno-Machado, L.6
Tang, H.7
-
171
-
-
84890526744
-
Genetic data and electronic health records: A discussion of ethical, logistical and technological considerations
-
[CrossRef] [PubMed]
-
Shoenbill, K.; Fost, N.; Tachinardi, U.; Mendonca, E.A. Genetic data and electronic health records: A discussion of ethical, logistical and technological considerations. J. Am. Med. Inform. Assoc. 2014, 21, 171-180. [CrossRef] [PubMed]
-
(2014)
J. Am. Med. Inform. Assoc
, vol.21
, pp. 171-180
-
-
Shoenbill, K.1
Fost, N.2
Tachinardi, U.3
Mendonca, E.A.4
-
172
-
-
78651394465
-
Bring on the biomarkers
-
[CrossRef] [PubMed]
-
Poste, G. Bring on the biomarkers. Nature 2011, 469, 156-157. [CrossRef] [PubMed]
-
(2011)
Nature
, vol.469
, pp. 156-157
-
-
Poste, G.1
-
173
-
-
84959496982
-
Integrative methods for analyzing big data in precision medicine
-
[CrossRef] [PubMed]
-
Gligorijevic, V.; Malod-Dognin, N.; Przulj, N. Integrative methods for analyzing big data in precision medicine. Proteomics 2016, 16, 741-758. [CrossRef] [PubMed]
-
(2016)
Proteomics
, vol.16
, pp. 741-758
-
-
Gligorijevic, V.1
Malod-Dognin, N.2
Przulj, N.3
-
174
-
-
84946040296
-
Identification of type 2 diabetes subgroups through topological analysis of patient similarity
-
311ra174. [CrossRef] [PubMed]
-
Li, L.; Cheng, W.Y.; Glicksberg, B.S.; Gottesman, O.; Tamler, R.; Chen, R.; Bottinger, E.P.; Dudley, J.T. Identification of type 2 diabetes subgroups through topological analysis of patient similarity. Sci. Transl. Med. 2015, 7, 311ra174. [CrossRef] [PubMed]
-
(2015)
Sci. Transl. Med
, vol.7
-
-
Li, L.1
Cheng, W.Y.2
Glicksberg, B.S.3
Gottesman, O.4
Tamler, R.5
Chen, R.6
Bottinger, E.P.7
Dudley, J.T.8
-
175
-
-
84944743064
-
Databases for multilevel biophysiology research available at physiome.jp
-
[CrossRef] [PubMed]
-
Asai, Y.; Abe, T.; Li, L.; Oka, H.; Nomura, T.; Kitano, H. Databases for multilevel biophysiology research available at physiome.jp. Front. Physiol. 2015, 6, 251. [CrossRef] [PubMed]
-
(2015)
Front. Physiol
, vol.6
, pp. 251
-
-
Asai, Y.1
Abe, T.2
Li, L.3
Oka, H.4
Nomura, T.5
Kitano, H.6
-
176
-
-
79952115988
-
Toward a VPH/physiome toolkit
-
[CrossRef] [PubMed]
-
Garny, A.; Cooper, J.; Hunter, P.J. Toward a VPH/physiome toolkit. Wiley Interdiscip. Rev. Syst. Biol. Med. 2010, 2, 134-147. [CrossRef] [PubMed]
-
(2010)
Wiley Interdiscip. Rev. Syst. Biol. Med
, vol.2
, pp. 134-147
-
-
Garny, A.1
Cooper, J.2
Hunter, P.J.3
-
177
-
-
84959282928
-
Multiscale modeling in the clinic: Drug design and development
-
[CrossRef] [PubMed]
-
Clancy, C.E.; An, G.; Cannon W.R.; Liu, Y.; May, E.E.; Ortoleva, P.; Popel, A.S.; Sluka, J.P.; Su, J.; Vicini, P. et al. Multiscale modeling in the clinic: Drug design and development. Ann. Biomed. Eng. 2016, 44, 2591-2610. [CrossRef] [PubMed]
-
(2016)
Ann. Biomed. Eng
, vol.44
, pp. 2591-2610
-
-
Clancy, C.E.1
An, G.2
Cannon, W.R.3
Liu, Y.4
May, E.E.5
Ortoleva, P.6
Popel, A.S.7
Sluka, J.P.8
Su, J.9
Vicini, P.10
-
178
-
-
85009243668
-
Pathology informatics essentials for residents: A flexible informatics curriculum linked to accreditation council for graduate medical education milestones
-
[PubMed]
-
Henricks, W.H.; Karcher, D.S.; Harrison, J.H.; Sinard, J.H.; Riben, M.W.; Boyer, P.J.; Plath, S.; Thompson, A.; Pantanowitz, L. Pathology informatics essentials for residents: A flexible informatics curriculum linked to accreditation council for graduate medical education milestones. J. Pathol. Inform. 2016, 7, 27. [PubMed]
-
(2016)
J. Pathol. Inform
, vol.7
, pp. 27
-
-
Henricks, W.H.1
Karcher, D.S.2
Harrison, J.H.3
Sinard, J.H.4
Riben, M.W.5
Boyer, P.J.6
Plath, S.7
Thompson, A.8
Pantanowitz, L.9
-
179
-
-
84954290310
-
Computational pathology: A path ahead
-
[CrossRef] [PubMed]
-
Louis, D.N.; Feldman, M.; Carter, A.B.; Dighe, A.S.; Pfeifer, J.D.; Bry, L.; Almeida, J.S.; Saltz, J.; Braun, J.; Tomaszewski, J.E. Computational pathology: A path ahead. Arch. Pathol. Lab. Med. 2015, 140, 41-50. [CrossRef] [PubMed]
-
(2015)
Arch. Pathol. Lab. Med
, vol.140
, pp. 41-50
-
-
Louis, D.N.1
Feldman, M.2
Carter, A.B.3
Dighe, A.S.4
Pfeifer, J.D.5
Bry, L.6
Almeida, J.S.7
Saltz, J.8
Braun, J.9
Tomaszewski, J.E.10
-
180
-
-
84907212716
-
Computational pathology: An emerging definition
-
[CrossRef] [PubMed]
-
Louis, D.N.; Gerber, G.K.; Baron, J.M.; Bry, L.; Dighe, A.S.; Getz, G.; Higgins, J.M.; Kuo, F.C.; Lane, W.J.; Michaelson, J.S. Computational pathology: An emerging definition. Arch. Pathol. Lab. Med. 2014, 138, 1133-1138. [CrossRef] [PubMed]
-
(2014)
Arch. Pathol. Lab. Med
, vol.138
, pp. 1133-1138
-
-
Louis, D.N.1
Gerber, G.K.2
Baron, J.M.3
Bry, L.4
Dighe, A.S.5
Getz, G.6
Higgins, J.M.7
Kuo, F.C.8
Lane, W.J.9
Michaelson, J.S.10
-
181
-
-
84957628653
-
Translational bioinformatics and clinical research (Biomedical) informatics
-
[CrossRef] [PubMed]
-
Sirintrapun, S.J.; Zehir, A.; Syed, A.; Gao, J.; Schultz, N.; Cheng, D.T. Translational bioinformatics and clinical research (biomedical) informatics. Clin. Lab. Med. 2016, 36, 153-181. [CrossRef] [PubMed]
-
(2016)
Clin. Lab. Med
, vol.36
, pp. 153-181
-
-
Sirintrapun, S.J.1
Zehir, A.2
Syed, A.3
Gao, J.4
Schultz, N.5
Cheng, D.T.6
-
182
-
-
84968813824
-
Deep patient: An unsupervised representation to predict the future of patients from the electronic health records
-
[CrossRef] [PubMed]
-
Miotto, R.; Li, L.; Kidd, B.A.; Dudley, J.T. Deep patient: An unsupervised representation to predict the future of patients from the electronic health records. Sci. Rep. 2016, 6, 26094. [CrossRef] [PubMed]
-
(2016)
Sci. Rep
, vol.6
, pp. 26094
-
-
Miotto, R.1
Li, L.2
Kidd, B.A.3
Dudley, J.T.4
-
183
-
-
84987713568
-
Bioinformatics methods and tools to advance clinical care. Findings from the yearbook 2015 section on bioinformatics and translational informatics
-
[CrossRef] [PubMed]
-
Soualmia, L.F.; Lecroq, T. Bioinformatics methods and tools to advance clinical care. Findings from the yearbook 2015 section on bioinformatics and translational informatics. Yearb. Med. Inform. 2015, 10, 170-173. [CrossRef] [PubMed]
-
(2015)
Yearb. Med. Inform
, vol.10
, pp. 170-173
-
-
Soualmia, L.F.1
Lecroq, T.2
-
184
-
-
84981180095
-
An informatics research agenda to support precision medicine: Seven key areas
-
[CrossRef] [PubMed]
-
Tenenbaum, J.D.; Avillach, P.; Benham-Hutchins, M.; Breitenstein, M.K.; Crowgey, E.L.; Hoffman, M.A.; Jiang, X.; Madhavan, S.; Mattison, J.E.; Nagarajan, R. et al. An informatics research agenda to support precision medicine: Seven key areas. JAMIA 2016, 23, 791-795. [CrossRef] [PubMed]
-
(2016)
JAMIA
, vol.23
, pp. 791-795
-
-
Tenenbaum, J.D.1
Avillach, P.2
Benham-Hutchins, M.3
Breitenstein, M.K.4
Crowgey, E.L.5
Hoffman, M.A.6
Jiang, X.7
Madhavan, S.8
Mattison, J.E.9
Nagarajan, R.10
-
185
-
-
84964556719
-
A research roadmap for next-generation sequencing informatics
-
335ps310[CrossRef] [PubMed]
-
Altman, R.B.; Prabhu, S.; Sidow, A.; Zook, J.M.; Goldfeder, R.; Litwack, D.; Ashley, E.; Asimenos, G.; Bustamante, C.D.; Donigan, K. et al. A research roadmap for next-generation sequencing informatics. Sci. Transl. Med. 2016, 8, 335ps310. [CrossRef] [PubMed]
-
(2016)
Sci. Transl. Med
, vol.8
-
-
Altman, R.B.1
Prabhu, S.2
Sidow, A.3
Zook, J.M.4
Goldfeder, R.5
Litwack, D.6
Ashley, E.7
Asimenos, G.8
Bustamante, C.D.9
Donigan, K.10
-
186
-
-
84865768271
-
Compendium of inborn errors of metabolism mapped onto the human metabolic network
-
[CrossRef] [PubMed]
-
Sahoo, S.; Franzson, L.; Jonsson, J.J.; Thiele, I. A compendium of inborn errors of metabolism mapped onto the human metabolic network. Mol. BioSyst. 2012, 8, 2545-2558. [CrossRef] [PubMed]
-
(2012)
Mol. Biosyst
, vol.8
, pp. 2545-2558
-
-
Sahoo, S.1
Franzson, L.2
Jonsson, J.J.3
Thiele, I.A.4
-
187
-
-
84872037912
-
Chapter 5: Network biology approach to complex diseases
-
[CrossRef] [PubMed]
-
Cho, D.-Y.; Kim, Y.-A.; Przytycka, T.M. Chapter 5: Network biology approach to complex diseases. PLoS Comput. Biol. 2012, 8, e1002820. [CrossRef] [PubMed]
-
(2012)
Plos Comput. Biol
, vol.8
-
-
Cho, D.-Y.1
Kim, Y.-A.2
Przytycka, T.M.3
-
188
-
-
84864818817
-
Revolutionizing medicine in the 21st century through systems approaches
-
[CrossRef] [PubMed]
-
Hood, L.; Balling, R.; Auffray, C. Revolutionizing medicine in the 21st century through systems approaches. Biotechnol. J. 2012, 7, 992-1001. [CrossRef] [PubMed]
-
(2012)
Biotechnol. J
, vol.7
, pp. 992-1001
-
-
Hood, L.1
Balling, R.2
Auffray, C.3
|