-
1
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng, S.B., Turner, E.H., Robertson, P.D., Flygare, S.D., Bigham, A.W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E.E. et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature, 461, 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
Lee, C.6
Shaffer, T.7
Wong, M.8
Bhattacharjee, A.9
Eichler, E.E.10
-
2
-
-
80053355174
-
Comprehensive comparison of three commercial human whole-exome capture platforms
-
Asan, Xu, Y., Jiang, H., Tyler-Smith, C., Xue, Y., Jiang, T., Wang, J., Wu, M., Liu, X., Tian, G. et al. (2011) Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol., 12, R95.
-
(2011)
Genome Biol.
, vol.12
, pp. R95
-
-
Asan Xu, Y.1
Jiang, H.2
Tyler-Smith, C.3
Xue, Y.4
Jiang, T.5
Wang, J.6
Wu, M.7
Liu, X.8
Tian, G.9
-
3
-
-
80054757012
-
Performance comparison of exome DNA sequencing technologies
-
Clark, M.J., Chen, R., Lam, H.Y., Karczewski, K.J., Euskirchen, G., Butte, A.J. and Snyder, M. (2011) Performance comparison of exome DNA sequencing technologies. Nat. Biotechnol., 29, 908-914.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 908-914
-
-
Clark, M.J.1
Chen, R.2
Lam, H.Y.3
Karczewski, K.J.4
Euskirchen, G.5
Butte, A.J.6
Snyder, M.7
-
4
-
-
84857990816
-
A comparative analysis of exome capture
-
Parla, J.S., Iossifov, I., Grabill, I., Spector, M.S., Kramer, M. and McCombie, W.R. (2011) A comparative analysis of exome capture. Genome Biol., 12, R97.
-
(2011)
Genome Biol
, vol.12
, pp. R97
-
-
Parla, J.S.1
Iossifov, I.2
Grabill, I.3
Spector, M.S.4
Kramer, M.5
McCombie, W.R.6
-
5
-
-
80052830541
-
Comparison of solution-based exome capture methods for next generation sequencing
-
Sulonen, A.M., Ellonen, P., Almusa, H., Lepisto, M., Eldfors, S., Hannula, S., Miettinen, T., Tyynismaa, H., Salo, P., Heckman, C. et al. (2011) Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol., 12, R94.
-
(2011)
Genome Biol.
, vol.12
, pp. R94
-
-
Sulonen, A.M.1
Ellonen, P.2
Almusa, H.3
Lepisto, M.4
Eldfors, S.5
Hannula, S.6
Miettinen, T.7
Tyynismaa, H.8
Salo, P.9
Heckman, C.10
-
6
-
-
84903879868
-
Performance comparison of four exome capture systems for deep sequencing
-
Chilamakuri, C.S., Lorenz, S., Madoui, M.A., Vodak, D., Sun, J., Hovig, E., Myklebost, O. and Meza-Zepeda, L.A. (2014) Performance comparison of four exome capture systems for deep sequencing. BMC Genomics, 15, 449.
-
(2014)
BMC Genomics
, vol.15
, pp. 449
-
-
Chilamakuri, C.S.1
Lorenz, S.2
Madoui, M.A.3
Vodak, D.4
Sun, J.5
Hovig, E.6
Myklebost, O.7
Meza-Zepeda, L.A.8
-
7
-
-
84855566198
-
Performance comparison of whole-genome sequencing platforms
-
Lam, H.Y., Clark, M.J., Chen, R., Natsoulis, G., O'Huallachain, M., Dewey, F.E., Habegger, L., Ashley, E.A., Gerstein, M.B., Butte, A.J. et al. (2011) Performance comparison of whole-genome sequencing platforms. Nat. Biotechnol., 30, 78-82.
-
(2011)
Nat. Biotechnol.
, vol.30
, pp. 78-82
-
-
Lam, H.Y.1
Clark, M.J.2
Chen, R.3
Natsoulis, G.4
O'Huallachain, M.5
Dewey, F.E.6
Habegger, L.7
Ashley, E.A.8
Gerstein, M.B.9
Butte, A.J.10
-
8
-
-
80053557894
-
Human genome sequencing in health and disease
-
Gonzaga-Jauregui, C., Lupski, J.R. and Gibbs, R.A. (2012) Human genome sequencing in health and disease. Annu. Rev. Med., 63, 35-61.
-
(2012)
Annu. Rev. Med.
, vol.63
, pp. 35-61
-
-
Gonzaga-Jauregui, C.1
Lupski, J.R.2
Gibbs, R.A.3
-
9
-
-
84878825544
-
Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies
-
Rieber, N., Zapatka, M., Lasitschka, B., Jones, D., Northcott, P., Hutter, B., Jager, N., Kool, M., Taylor, M., Lichter, P. et al. (2013) Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies. PLoS One, 8, e66621.
-
(2013)
PLoS One
, vol.8
, pp. 66621
-
-
Rieber, N.1
Zapatka, M.2
Lasitschka, B.3
Jones, D.4
Northcott, P.5
Hutter, B.6
Jager, N.7
Kool, M.8
Taylor, M.9
Lichter, P.10
-
10
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
Dewey, F.E., Grove, M.E., Pan, C., Goldstein, B.A., Bernstein, J.A., Chaib, H., Merker, J.D., Goldfeder, R.L., Enns, G.M., David, S.P. et al. (2014) Clinical interpretation and implications of whole-genome sequencing. Jama, 311, 1035-1045.
-
(2014)
Jama
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
Grove, M.E.2
Pan, C.3
Goldstein, B.A.4
Bernstein, J.A.5
Chaib, H.6
Merker, J.D.7
Goldfeder, R.L.8
Enns, G.M.9
David, S.P.10
-
11
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
Choi, M., Scholl, U.I., Ji, W., Liu, T., Tikhonova, I.R., Zumbo, P., Nayir, A., Bakkaloglu, A., Ozen, S., Sanjad, S. et al. (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. U.S.A., 106, 19096-19101.
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
, pp. 19096-19101
-
-
Choi, M.1
Scholl, U.I.2
Ji, W.3
Liu, T.4
Tikhonova, I.R.5
Zumbo, P.6
Nayir, A.7
Bakkaloglu, A.8
Ozen, S.9
Sanjad, S.10
-
12
-
-
84908355780
-
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome
-
McInerney-Leo, A.M., Marshall, M.S., Gardiner, B., Coucke, P.J., Van Laer, L., Loeys, B.L., Summers, K.M., Symoens, S., West, J.A., West, M.J. et al. (2013) Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. Bonekey Rep., 2, 456.
-
(2013)
Bonekey Rep
, vol.2
, pp. 456
-
-
McInerney-Leo, A.M.1
Marshall, M.S.2
Gardiner, B.3
Coucke, P.J.4
Van Laer, L.5
Loeys, B.L.6
Summers, K.M.7
Symoens, S.8
West, J.A.9
West, M.J.10
-
13
-
-
84875312984
-
Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing
-
O'Rawe, J., Jiang, T., Sun, G., Wu, Y., Wang, W., Hu, J., Bodily, P., Tian, L., Hakonarson, H., Johnson, W.E. et al. (2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med., 5, 28.
-
(2013)
Genome Med
, vol.5
, pp. 28
-
-
O'Rawe, J.1
Jiang, T.2
Sun, G.3
Wu, Y.4
Wang, W.5
Hu, J.6
Bodily, P.7
Tian, L.8
Hakonarson, H.9
Johnson, W.E.10
-
14
-
-
84891855440
-
The role and challenges of exome sequencing in studies of human diseases
-
Wang, Z., Liu, X., Yang, B.Z. and Gelernter, J. (2013) The role and challenges of exome sequencing in studies of human diseases. Front. Genet., 4, 160.
-
(2013)
Front. Genet.
, vol.4
, pp. 160
-
-
Wang, Z.1
Liu, X.2
Yang, B.Z.3
Gelernter, J.4
-
15
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
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. (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med., 369, 1502-1511.
-
(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
-
16
-
-
84893252645
-
The promise of whole-exome sequencing in medical genetics
-
Rabbani, B., Tekin, M. and Mahdieh, N. (2014) The promise of whole-exome sequencing in medical genetics. J. Hum. Genet., 59, 5-15.
-
(2014)
J. Hum. Genet.
, vol.59
, pp. 5-15
-
-
Rabbani, B.1
Tekin, M.2
Mahdieh, N.3
-
17
-
-
0036197411
-
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene
-
Matyas, G., De Paepe, A., Halliday, D., Boileau, C., Pals, G. and Steinmann, B. (2002) Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Hum. Mutat., 19, 443-456.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 443-456
-
-
Matyas, G.1
De Paepe, A.2
Halliday, D.3
Boileau, C.4
Pals, G.5
Steinmann, B.6
-
18
-
-
33747016789
-
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders
-
Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., Boileau, C., Berger, W. and Steinmann, B. (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum. Mutat., 27, 760-769.
-
(2006)
Hum. Mutat.
, vol.27
, pp. 760-769
-
-
Matyas, G.1
Arnold, E.2
Carrel, T.3
Baumgartner, D.4
Boileau, C.5
Berger, W.6
Steinmann, B.7
-
19
-
-
34447263560
-
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
-
Matyas, G., Alonso, S., Patrignani, A., Marti, M., Arnold, E., Magyar, I., Henggeler, C., Carrel, T., Steinmann, B. and Berger, W. (2007) Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum. Genet., 122, 23-32.
-
(2007)
Hum. Genet.
, vol.122
, pp. 23-32
-
-
Matyas, G.1
Alonso, S.2
Patrignani, A.3
Marti, M.4
Arnold, E.5
Magyar, I.6
Henggeler, C.7
Carrel, T.8
Steinmann, B.9
Berger, W.10
-
20
-
-
78549245103
-
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: A lesson for and from true haploinsufficiency
-
Meienberg, J., Rohrbach, M., Neuenschwander, S., Spanaus, K., Giunta, C., Alonso, S., Arnold, E., Henggeler, C., Regenass, S., Patrignani, A. et al. (2010) Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur. J. Hum. Genet., 18, 1315-1321.
-
(2010)
Eur. J. Hum. Genet.
, vol.18
, pp. 1315-1321
-
-
Meienberg, J.1
Rohrbach, M.2
Neuenschwander, S.3
Spanaus, K.4
Giunta, C.5
Alonso, S.6
Arnold, E.7
Henggeler, C.8
Regenass, S.9
Patrignani, A.10
-
21
-
-
84861400043
-
CN.MOPS: Mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate
-
Klambauer, G., Schwarzbauer, K., Mayr, A., Clevert, D.A., Mitterecker, A., Bodenhofer, U. and Hochreiter, S. (2012) cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. Nucleic Acids Res., 40, e69.
-
(2012)
Nucleic Acids Res
, Issue.40
, pp. 69
-
-
Klambauer, G.1
Schwarzbauer, K.2
Mayr, A.3
Clevert, D.A.4
Mitterecker, A.5
Bodenhofer, U.6
Hochreiter, S.7
-
22
-
-
84867280219
-
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
-
Fromer, M., Moran, J.L., Chambert, K., Banks, E., Bergen, S.E., Ruderfer, D.M., Handsaker, R.E., McCarroll, S.A., O'Donovan, M.C., Owen, M.J. et al. (2012) Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am. J. Hum. Genet., 91, 597-607.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 597-607
-
-
Fromer, M.1
Moran, J.L.2
Chambert, K.3
Banks, E.4
Bergen, S.E.5
Ruderfer, D.M.6
Handsaker, R.E.7
McCarroll, S.A.8
O'Donovan, M.C.9
Owen, M.J.10
-
23
-
-
69549116107
-
BreakDancer: An algorithm for high-resolution mapping of genomic structural variation
-
Chen, K., Wallis, J.W., McLellan, M.D., Larson, D.E., Kalicki, J.M., Pohl, C.S., McGrath, S.D., Wendl, M.C., Zhang, Q., Locke, D.P. et al. (2009) BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat. Methods, 6, 677-681.
-
(2009)
Nat. Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
Wallis, J.W.2
McLellan, M.D.3
Larson, D.E.4
Kalicki, J.M.5
Pohl, C.S.6
McGrath, S.D.7
Wendl, M.C.8
Zhang, Q.9
Locke, D.P.10
-
24
-
-
84861548193
-
Summarizing and correcting the GC content bias in high-throughput sequencing
-
Benjamini, Y. and Speed, T.P. (2012) Summarizing and correcting the GC content bias in high-throughput sequencing. Nucleic Acids Res., 40, e72.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 72
-
-
Benjamini, Y.1
Speed, T.P.2
-
25
-
-
84897387657
-
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
-
Zook, J.M., Chapman, B., Wang, J., Mittelman, D., Hofmann, O., Hide, W. and Salit, M. (2014) Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat. Biotechnol., 32, 246-251.
-
(2014)
Nat. Biotechnol.
, vol.32
, pp. 246-251
-
-
Zook, J.M.1
Chapman, B.2
Wang, J.3
Mittelman, D.4
Hofmann, O.5
Hide, W.6
Salit, M.7
-
26
-
-
84879043343
-
Quantifying single nucleotide variant detection sensitivity in exome sequencing
-
Meynert, A.M., Bicknell, L.S., Hurles, M.E., Jackson, A.P. and Taylor, M.S. (2013) Quantifying single nucleotide variant detection sensitivity in exome sequencing. BMC Bioinformatics, 14, 195.
-
(2013)
BMC Bioinformatics
, vol.14
, pp. 195
-
-
Meynert, A.M.1
Bicknell, L.S.2
Hurles, M.E.3
Jackson, A.P.4
Taylor, M.S.5
-
27
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan, C., Coe, B.P. and Eichler, E.E. (2011) Genome structural variation discovery and genotyping. Nat. Rev. Genet., 12, 363-376.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
28
-
-
84869021472
-
Copy number variation detection from 1000 genomes project exon capture sequencing data
-
Wu, J., Grzeda, K.R., Stewart, C., Grubert, F., Urban, A.E., Snyder, M.P. and Marth, G.T. (2012) Copy number variation detection from 1000 genomes project exon capture sequencing data. BMC Bioinformatics, 13, 305.
-
(2012)
BMC Bioinformatics
, vol.13
, pp. 305
-
-
Wu, J.1
Grzeda, K.R.2
Stewart, C.3
Grubert, F.4
Urban, A.E.5
Snyder, M.P.6
Marth, G.T.7
-
29
-
-
84876480192
-
Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers
-
Okoniewski, M.J., Meienberg, J., Patrignani, A., Szabelska, A., Matyas, G. and Schlapbach, R. (2013) Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers. Biotechniques, 54, 98-100.
-
(2013)
Biotechniques
, vol.54
, pp. 98-100
-
-
Okoniewski, M.J.1
Meienberg, J.2
Patrignani, A.3
Szabelska, A.4
Matyas, G.5
Schlapbach, R.6
-
30
-
-
84887617035
-
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
-
Neveling, K., Feenstra, I., Gilissen, C., Hoefsloot, L.H., Kamsteeg, E.J., Mensenkamp, A.R., Rodenburg, R.J., Yntema, H.G., Spruijt, L., Vermeer, S. et al. (2013) A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum. Mutat., 34, 1721-1726.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 1721-1726
-
-
Neveling, K.1
Feenstra, I.2
Gilissen, C.3
Hoefsloot, L.H.4
Kamsteeg, E.J.5
Mensenkamp, A.R.6
Rodenburg, R.J.7
Yntema, H.G.8
Spruijt, L.9
Vermeer, S.10
-
31
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
ENCODE Project Consortium
-
ENCODE Project Consortium. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
|