-
1
-
-
79953685152
-
The impact of next-generation sequencing on genomics
-
Zhang, J., Chiodini, R., Badr, A. et al. (2011) The impact of next-generation sequencing on genomics. J. Genet. Genomics, 38, 95-109.
-
(2011)
J. Genet. Genomics
, vol.38
, pp. 95-109
-
-
Zhang, J.1
Chiodini, R.2
Badr, A.3
-
2
-
-
84857162071
-
Bioinformatics for personal genome interpretation
-
Capriotti, E., Nehrt, N.L., Kann, M.G. et al. (2012) Bioinformatics for personal genome interpretation. Brief. Bioinform., 13, 495-512.
-
(2012)
Brief. Bioinform.
, vol.13
, pp. 495-512
-
-
Capriotti, E.1
Nehrt, N.L.2
Kann, M.G.3
-
3
-
-
77956838065
-
Advances in understanding cancer genomes through second-generation sequencing
-
Meyerson, M., Gabriel, S. and Getz, G. (2010) Advances in understanding cancer genomes through second-generation sequencing. Nat. Rev. Genet., 11, 685-696.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 685-696
-
-
Meyerson, M.1
Gabriel, S.2
Getz, G.3
-
4
-
-
79951481957
-
Initial impact of the sequencing of the human genome
-
Lander, E.S. (2011) Initial impact of the sequencing of the human genome. Nature, 470, 187-197.
-
(2011)
Nature
, vol.470
, pp. 187-197
-
-
Lander, E.S.1
-
5
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
Bernstein, B.E., Birney, E., Dunham, I. et al. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Bernstein, B.E.1
Birney, E.2
Dunham, I.3
-
6
-
-
84861576201
-
The landscape of cancer genes and mutational processes in Breast cancer
-
Stephens, P.J., Tarpey, P.S., Davies, H. et al. (2012) The landscape of cancer genes and mutational processes in breast cancer. Nature, 486, 400-404.
-
(2012)
Nature
, vol.486
, pp. 400-404
-
-
Stephens, P.J.1
Tarpey, P.S.2
Davies, H.3
-
7
-
-
79959838081
-
Integrated gen-omic analyses of ovarian carcinoma
-
Cancer Genome Atlas Research Network. (2011) Integrated gen-omic analyses of ovarian carcinoma. Nature, 474, 609-615.
-
(2011)
Nature
, vol.474
, pp. 609-615
-
-
-
8
-
-
84878593111
-
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity
-
Dulak, A.M., Stojanov, P., Peng, S. et al. (2013) Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat. Genet., 45, 478-486.
-
(2013)
Nat. Genet.
, vol.45
, pp. 478-486
-
-
Dulak, A.M.1
Stojanov, P.2
Peng, S.3
-
9
-
-
84878979335
-
Biology: The big challenges of big data
-
Marx, V. (2013) Biology: the big challenges of big data. Nature, 498, 255-260.
-
(2013)
Nature
, vol.498
, pp. 255-260
-
-
Marx, V.1
-
10
-
-
78650775954
-
The $1,000 genome, the $100,000 analysis?
-
Mardis, E.R. (2010) The $1,000 genome, the $100,000 analysis? Genome Med., 2, 84.
-
(2010)
Genome Med.
, vol.2
, pp. 84
-
-
Mardis, E.R.1
-
11
-
-
84899541625
-
Big data in biomedicine
-
Costa, F.F. (2013) Big data in biomedicine. Drug Discov. Today, doi: 10.1016/j.drudis.2013.10.012.
-
(2013)
Drug Discov. Today
-
-
Costa, F.F.1
-
12
-
-
84862198590
-
The sequence read archive: Explosive growth of sequencing data
-
Kodama, Y., Shumway, M. and Leinonen, R. (2012) The Sequence Read Archive: explosive growth of sequencing data. Nucleic Acids Res., 40, D54-D56.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. D54-D56
-
-
Kodama, Y.1
Shumway, M.2
Leinonen, R.3
-
13
-
-
84859436530
-
NCBI reference sequences (RefSeq): Current status, new features and genome annotation policy
-
Pruitt, K.D., Tatusova, T., Brown, G.R. et al. (2012) NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy. Nucleic Acids Res., 40, D130-D135.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. D130-D135
-
-
Pruitt, K.D.1
Tatusova, T.2
Brown, G.R.3
-
14
-
-
84860833500
-
Reorganizing the protein space at the universal protein resource (UniProt)
-
The UniProt Consortium. (2012) Reorganizing the protein space at the Universal Protein Resource (UniProt). Nucleic Acids Res., 40, D71-D75.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. D71-D75
-
-
-
15
-
-
18444400543
-
The protein information resource: An integrated public resource of functional annotation of proteins
-
Wu, C.H., Huang, H., Arminski, L. et al. (2002) The Protein Information Resource: an integrated public resource of functional annotation of proteins. Nucleic Acids Res., 30, 35-37.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 35-37
-
-
Wu, C.H.1
Huang, H.2
Arminski, L.3
-
16
-
-
84857745267
-
Database resources of the national center for biotechnology information
-
Sayers, E.W., Barrett, T., Benson, D.A. et al. (2012) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res., 40, D13-D25.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. D13-D25
-
-
Sayers, E.W.1
Barrett, T.2
Benson, D.A.3
-
17
-
-
84858077472
-
The pfam protein families database
-
Punta, M., Coggill, P.C., Eberhardt, R.Y. et al. (2012) The Pfam protein families database. Nucleic Acids Res., 40, D290-D301.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. D290-D301
-
-
Punta, M.1
Coggill, P.C.2
Eberhardt, R.Y.3
-
18
-
-
9144231826
-
PIRSF: Family classification system at the protein information resource
-
Wu, C.H., Nikolskaya, A., Huang, H. et al. (2004) PIRSF: family classification system at the Protein Information Resource. Nucleic Acids Res., 32, D112-D114.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. D112-D114
-
-
Wu, C.H.1
Nikolskaya, A.2
Huang, H.3
-
19
-
-
84892511644
-
Large-scale gene function analysis with the PANTHER classification system
-
Mi, H., Muruganujan, A., Casagrande, J.T. et al. (2013) Large-scale gene function analysis with the PANTHER classification system. Nat. Protoc., 8, 1551-1566.
-
(2013)
Nat. Protoc.
, vol.8
, pp. 1551-1566
-
-
Mi, H.1
Muruganujan, A.2
Casagrande, J.T.3
-
21
-
-
84855465544
-
Human variation databases
-
Kuntzer, J., Eggle, D., Klostermann, S. et al. (2010) Human variation databases. Database, 2010, baq015.
-
(2010)
Database
, vol.2010
-
-
Kuntzer, J.1
Eggle, D.2
Klostermann, S.3
-
22
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis, G.R., Auton, A., Brooks, L.D. et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
23
-
-
84885652613
-
DNA sequencing methods in human genetics and disease research
-
Lehrach, H. (2013) DNA sequencing methods in human genetics and disease research. F1000Prime Rep., 5, 34.
-
(2013)
F1000Prime Rep.
, vol.5
, pp. 34
-
-
Lehrach, H.1
-
24
-
-
84876797918
-
SNVDis: A prote-ome-wide analysis service for evaluating nsSNVs in protein functional sites and pathways
-
Karagiannis, K., Simonyan, V. and Mazumder, R. (2013) SNVDis: a prote-ome-wide analysis service for evaluating nsSNVs in protein functional sites and pathways. Genomics Proteomics Bioinformatics, 11, 122-126.
-
(2013)
Genomics Proteomics Bioinformatics
, vol.11
, pp. 122-126
-
-
Karagiannis, K.1
Simonyan, V.2
Mazumder, R.3
-
25
-
-
84881613239
-
DbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations
-
Liu, X., Jian, X. and Boerwinkle, E. (2013) dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum. Mutat., 34, E2393-E2402.
-
(2013)
Hum. Mutat.
, vol.34
, pp. E2393-E2402
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
-
26
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., Henikoff, S. and Ng, P.C. (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc., 4, 1073-1081.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
27
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L. et al. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
28
-
-
84859789410
-
Opportunities and challenges for the life sciences community
-
Kolker, E., Stewart, E. and Ozdemir, V. (2012) Opportunities and challenges for the life sciences community. OMICS, 16, 138-147.
-
(2012)
Omics
, vol.16
, pp. 138-147
-
-
Kolker, E.1
Stewart, E.2
Ozdemir, V.3
-
29
-
-
84866002291
-
The cBio cancer gen-omics portal: An open platform for exploring multidimensional cancer genomics data
-
Cerami, E., Gao, J., Dogrusoz, U. et al. (2012) The cBio cancer gen-omics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov., 2, 401-404.
-
(2012)
Cancer Discov.
, vol.2
, pp. 401-404
-
-
Cerami, E.1
Gao, J.2
Dogrusoz, U.3
-
30
-
-
84855401988
-
International cancer genome consortium data portal - A one-stop shop for cancer gen-omics data
-
Zhang, J., Baran, J., Cros, A. et al. (2011) International Cancer Genome Consortium Data Portal - a one-stop shop for cancer gen-omics data. Database, 2011, bar026.
-
(2011)
Database
, vol.2011
-
-
Zhang, J.1
Baran, J.2
Cros, A.3
-
31
-
-
84891837451
-
The human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
-
Stenson, P.D., Mort, M., Ball, E.V. et al. (2013) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet., 133, 1-9.
-
(2013)
Hum. Genet.
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
-
32
-
-
78651330430
-
COSMIC: Mining complete cancer genomes in the catalogue of somatic mutations in cancer
-
Forbes, S.A., Bindal, N., Bamford, S. et al. (2011) COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res., 39, D945-D950.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. D945-D950
-
-
Forbes, S.A.1
Bindal, N.2
Bamford, S.3
-
33
-
-
6044271269
-
Swiss-prot: Juggling between evolution and stability
-
Bairoch, A., Boeckmann, B., Ferro, S. et al. (2004) Swiss-Prot: juggling between evolution and stability. Brief. Bioinform., 5, 39-55.
-
(2004)
Brief. Bioinform.
, vol.5
, pp. 39-55
-
-
Bairoch, A.1
Boeckmann, B.2
Ferro, S.3
-
34
-
-
84887036113
-
Taking pan-cancer analysis global
-
Editorial
-
Editorial. (2013) Taking pan-cancer analysis global. Nat. Genet., 45, 1263.
-
(2013)
Nat. Genet.
, vol.45
, pp. 1263
-
-
-
35
-
-
84891792303
-
Locus reference genomic: Reference sequences for the reporting of clinically relevant sequence variants
-
Macarthur, J.A., Morales, J., Tully, R.E. et al. (2014) Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. Nucleic Acids Res., 42, D873-D878.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D873-D878
-
-
Macarthur, J.A.1
Morales, J.2
Tully, R.E.3
-
36
-
-
75549087826
-
COSMIC (the catalogue of somatic mutations in cancer): A resource to investigate acquired mutations in human cancer
-
Forbes, S.A., Tang, G., Bindal, N. et al. (2010) COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer. Nucleic Acids Res, 38, D652-D657.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. D652-D657
-
-
Forbes, S.A.1
Tang, G.2
Bindal, N.3
-
37
-
-
84987631054
-
HIVE: Highly optimized efficient approaches of next-gen data analysis
-
Bio-IT, Boston
-
Dingerdissen, H., Voskanian, A., Santana-Quintero, L. et al. (2013) HIVE: Highly Optimized Efficient Approaches of Next-gen Data Analysis. Best poster award. Bio-IT Conference. Bio-IT, Boston. http://hive.biochemistry.gwu.edu/HIVE-AlgorithmicsPoster.pdf.
-
(2013)
Best Poster Award. Bio-IT Conference
-
-
Dingerdissen, H.1
Voskanian, A.2
Santana-Quintero, L.3
-
39
-
-
51349115095
-
Big data: The future of biocuration
-
Howe, D., Costanzo, M., Fey, P. et al. (2008) Big data: the future of biocuration. Nature, 455, 47-50.
-
(2008)
Nature
, vol.455
, pp. 47-50
-
-
Howe, D.1
Costanzo, M.2
Fey, P.3
-
40
-
-
79954499052
-
A comprehensive protein-centric ID mapping service for molecular data integration
-
Huang, H., McGarvey, P.B., Suzek, B.E. et al. (2011) A comprehensive protein-centric ID mapping service for molecular data integration. Bioinformatics, 27, 1190-1191.
-
(2011)
Bioinformatics
, vol.27
, pp. 1190-1191
-
-
Huang, H.1
McGarvey, P.B.2
Suzek, B.E.3
-
41
-
-
84875346781
-
Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins
-
Dingerdissen, H., Motwani, M., Karagiannis, K. et al. (2013) Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins. FEBS J., 280, 1542-1562.
-
(2013)
FEBS J.
, vol.280
, pp. 1542-1562
-
-
Dingerdissen, H.1
Motwani, M.2
Karagiannis, K.3
-
42
-
-
57549098807
-
The catalogue of somatic mutations in cancer (COSMIC)
-
Chapter 10, Unit 10.11
-
Forbes, S.A., Bhamra, G., Bamford, S. et al. (2008) The Catalogue of Somatic Mutations in Cancer (COSMIC). Curr. Protoc. Hum. Genet., Chapter 10, Unit 10.11.
-
(2008)
Curr. Protoc. Hum. Genet.
-
-
Forbes, S.A.1
Bhamra, G.2
Bamford, S.3
-
43
-
-
84876532610
-
Database resources of the national center for biotechnology information
-
NCBI Resource Coordinators. (2013) Database resources of the National Center for Biotechnology Information. Nucleic Acids Res., 41, D8-D20.
-
(2013)
Nucleic Acids Res.
, vol.41
, pp. D8-D20
-
-
-
44
-
-
34748848639
-
The NCBI dbGaP database of genotypes and phenotypes
-
Mailman, M.D., Feolo, M., Jin, Y. et al. (2007) The NCBI dbGaP database of genotypes and phenotypes. Nat. Genet., 39, 1181-1186.
-
(2007)
Nat. Genet.
, vol.39
, pp. 1181-1186
-
-
Mailman, M.D.1
Feolo, M.2
Jin, Y.3
-
45
-
-
84866461485
-
Accurate estimation of short read mapping quality for next-generation genome sequencing
-
Ruffalo, M., Koyuturk, M., Ray, S. et al. (2012) Accurate estimation of short read mapping quality for next-generation genome sequencing. Bioinformatics, 28, i349-i355.
-
(2012)
Bioinformatics
, vol.28
, pp. i349-i355
-
-
Ruffalo, M.1
Koyuturk, M.2
Ray, S.3
-
46
-
-
80053978849
-
Comparative analysis of algorithms for next-generation sequencing read alignment
-
Ruffalo, M., LaFramboise, T. and Koyuturk, M. (2011) Comparative analysis of algorithms for next-generation sequencing read alignment. Bioinformatics, 27, 2790-2796.
-
(2011)
Bioinformatics
, vol.27
, pp. 2790-2796
-
-
Ruffalo, M.1
LaFramboise, T.2
Koyuturk, M.3
-
47
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
Langmead, B., Trapnell, C., Pop, M. et al. (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol., 10, R25.
-
(2009)
Genome Biol.
, vol.10
, pp. R25
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
-
48
-
-
67649884743
-
Fast and accurate short read alignment with burrows-wheeler transform
-
Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
49
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
Li, H., Handsaker, B., Wysoker, A. et al. (2009) The sequence alignment/map format and SAMtools. Bioinformatics, 25, 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
50
-
-
82955211505
-
Bioinformatics: Biomarkers of early detection
-
Crichton, D.J., Mattmann, C.A., Thornquist, M. et al. (2010) Bioinformatics: biomarkers of early detection. Cancer Biomark., 9, 511-530.
-
(2010)
Cancer Biomark.
, vol.9
, pp. 511-530
-
-
Crichton, D.J.1
Mattmann, C.A.2
Thornquist, M.3
-
51
-
-
84876569864
-
Genenames.org: The HGNC resources in 2013
-
Gray, K.A., Daugherty, L.C., Gordon, S.M. et al. (2013) Genenames.org: the HGNC resources in 2013. Nucleic Acids Res., 41, D545-D552.
-
(2013)
Nucleic Acids Res.
, vol.41
, pp. D545-D552
-
-
Gray, K.A.1
Daugherty, L.C.2
Gordon, S.M.3
-
52
-
-
70349581595
-
PANTHER pathway: An ontology-based pathway database coupled with data analysis tools
-
Mi, H. and Thomas, P. (2009) PANTHER pathway: an ontology-based pathway database coupled with data analysis tools. Methods Mol. Biol., 563, 123-140.
-
(2009)
Methods Mol. Biol.
, vol.563
, pp. 123-140
-
-
Mi, H.1
Thomas, P.2
-
53
-
-
42049109764
-
PharmGKB and the international warfarin pharmacogenetics consortium: The changing role for pharmacogenomic databases and single-drug pharma-cogenetics
-
Owen, R.P., Altman, R.B. and Klein, T.E. (2008) PharmGKB and the International Warfarin Pharmacogenetics Consortium: the changing role for pharmacogenomic databases and single-drug pharma-cogenetics. Hum. Mutat., 29, 456-460.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 456-460
-
-
Owen, R.P.1
Altman, R.B.2
Klein, T.E.3
-
54
-
-
84855564475
-
Next-generation sequencing for cancer diagnostics: A practical perspective
-
Meldrum, C., Doyle, M.A. and Tothill, R.W. (2011) Next-generation sequencing for cancer diagnostics: a practical perspective. Clin. Biochem. Rev., 32, 177-195.
-
(2011)
Clin. Biochem. Rev.
, vol.32
, pp. 177-195
-
-
Meldrum, C.1
Doyle, M.A.2
Tothill, R.W.3
-
55
-
-
84896836477
-
Community annotation and the evolution of cooperation: How patience matters
-
Basuchoudhary, A., Simoyan, V. and Mazumder, R. (2013) Community annotation and the evolution of cooperation: how patience matters. Open Bioinform. J., 7, 9-18.
-
(2013)
Open Bioinform. J.
, vol.7
, pp. 9-18
-
-
Basuchoudhary, A.1
Simoyan, V.2
Mazumder, R.3
|