-
1
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
10.1101/gr.107524.110, 2928508, 20644199
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20(9):1297-1303. 10.1101/gr.107524.110, 2928508, 20644199.
-
(2010)
Genome Res
, vol.20
, Issue.9
, 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
-
2
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
10.1093/bioinformatics/btp352, 2723002, 19505943
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009, 25(16):2078-2079. 10.1093/bioinformatics/btp352, 2723002, 19505943.
-
(2009)
Bioinformatics
, vol.25
, Issue.16
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
3
-
-
84861155650
-
Exome sequencing generates high quality data in non-target regions
-
10.1186/1471-2164-13-194, 3416685, 22607156
-
Guo Y, Long J, He J, Li CI, Cai Q, Shu XO, Zheng W, Li C. Exome sequencing generates high quality data in non-target regions. BMC Genomics 2012, 13(1):194. 10.1186/1471-2164-13-194, 3416685, 22607156.
-
(2012)
BMC Genomics
, vol.13
, Issue.1
, pp. 194
-
-
Guo, Y.1
Long, J.2
He, J.3
Li, C.I.4
Cai, Q.5
Shu, X.O.6
Zheng, W.7
Li, C.8
-
4
-
-
61349163553
-
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
-
10.1038/ng.318, 2754845, 19219042
-
Zheng W, Long J, Gao YT, Li C, Zheng Y, Xiang YB, Wen W, Levy S, Deming SL, Haines JL, et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 2009, 41(3):324-328. 10.1038/ng.318, 2754845, 19219042.
-
(2009)
Nat Genet
, vol.41
, Issue.3
, pp. 324-328
-
-
Zheng, W.1
Long, J.2
Gao, Y.T.3
Li, C.4
Zheng, Y.5
Xiang, Y.B.6
Wen, W.7
Levy, S.8
Deming, S.L.9
Haines, J.L.10
-
5
-
-
28544443646
-
The Shanghai Women's Health Study: rationale, study design, and baseline characteristics
-
10.1093/aje/kwi322, 16236996
-
Zheng W, Chow WH, Yang G, Jin F, Rothman N, Blair A, Li HL, Wen W, Ji BT, Li Q, et al. The Shanghai Women's Health Study: rationale, study design, and baseline characteristics. Am J Epidemiol 2005, 162(11):1123-1131. 10.1093/aje/kwi322, 16236996.
-
(2005)
Am J Epidemiol
, vol.162
, Issue.11
, pp. 1123-1131
-
-
Zheng, W.1
Chow, W.H.2
Yang, G.3
Jin, F.4
Rothman, N.5
Blair, A.6
Li, H.L.7
Wen, W.8
Ji, B.T.9
Li, Q.10
-
6
-
-
77951226627
-
The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants
-
10.1093/nar/gkp1137, 2847217, 20015970
-
Cock PJ, Fields CJ, Goto N, Heuer ML, Rice PM. The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants. Nucleic Acids Res 2010, 38(6):1767-1771. 10.1093/nar/gkp1137, 2847217, 20015970.
-
(2010)
Nucleic Acids Res
, vol.38
, Issue.6
, pp. 1767-1771
-
-
Cock, P.J.1
Fields, C.J.2
Goto, N.3
Heuer, M.L.4
Rice, P.M.5
-
7
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
10.1093/bioinformatics/btp324, 2705234, 19451168
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25(14):1754-1760. 10.1093/bioinformatics/btp324, 2705234, 19451168.
-
(2009)
Bioinformatics
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
8
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
10.1038/nature09534, 3042601, 20981092
-
Durbin RM, Altshuler DL, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Collins FS, De la Vega FM, Donnelly P, Egholm M, et al. A map of human genome variation from population-scale sequencing. Nature 2010, 467(7319):1061-1073. 10.1038/nature09534, 3042601, 20981092.
-
(2010)
Nature
, vol.467
, Issue.7319
, pp. 1061-1073
-
-
Durbin, R.M.1
Altshuler, D.L.2
Abecasis, G.R.3
Bentley, D.R.4
Chakravarti, A.5
Clark, A.G.6
Collins, F.S.7
De la Vega, F.M.8
Donnelly, P.9
Egholm, M.10
-
9
-
-
84862807696
-
The use of next generation sequencing technology to study the effect of radiation therapy on mitochondrial DNA mutation
-
10.1016/j.mrgentox.2012.02.006, 22387842
-
Guo Y, Cai Q, Samuels DC, Ye F, Long J, Li CI, Winther JF, Tawn EJ, Stovall M, Lahteenmaki P, et al. The use of next generation sequencing technology to study the effect of radiation therapy on mitochondrial DNA mutation. Mutat Res 2012, 744(2):154-160. 10.1016/j.mrgentox.2012.02.006, 22387842.
-
(2012)
Mutat Res
, vol.744
, Issue.2
, pp. 154-160
-
-
Guo, Y.1
Cai, Q.2
Samuels, D.C.3
Ye, F.4
Long, J.5
Li, C.I.6
Winther, J.F.7
Tawn, E.J.8
Stovall, M.9
Lahteenmaki, P.10
-
10
-
-
79960572198
-
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities
-
10.1186/gb-2011-12-7-r68, 3218830, 21787409
-
Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol 2011, 12(7):R68. 10.1186/gb-2011-12-7-r68, 3218830, 21787409.
-
(2011)
Genome Biol
, vol.12
, Issue.7
-
-
Bainbridge, M.N.1
Wang, M.2
Wu, Y.3
Newsham, I.4
Muzny, D.M.5
Jefferies, J.L.6
Albert, T.J.7
Burgess, D.L.8
Gibbs, R.A.9
-
11
-
-
0031960185
-
Synonymous and nonsynonymous rate variation in nuclear genes of mammals
-
10.1007/PL00006320, 9541535
-
Yang Z, Nielsen R. Synonymous and nonsynonymous rate variation in nuclear genes of mammals. J Mol Evol 1998, 46(4):409-418. 10.1007/PL00006320, 9541535.
-
(1998)
J Mol Evol
, vol.46
, Issue.4
, pp. 409-418
-
-
Yang, Z.1
Nielsen, R.2
-
12
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
10.1038/nrg3031, 21946919
-
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011, 12(11):745-755. 10.1038/nrg3031, 21946919.
-
(2011)
Nat Rev Genet
, vol.12
, Issue.11
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
Tabor, H.K.4
Emond, M.J.5
Nickerson, D.A.6
Shendure, J.7
-
13
-
-
84859210032
-
Fast gapped-read alignment with Bowtie 2
-
10.1038/nmeth.1923, 22388286
-
Langmead B, Salzberg SL. Fast gapped-read alignment with Bowtie 2. Nat Methods 2012, 9(4):357-359. 10.1038/nmeth.1923, 22388286.
-
(2012)
Nat Methods
, vol.9
, Issue.4
, pp. 357-359
-
-
Langmead, B.1
Salzberg, S.L.2
-
14
-
-
84863229597
-
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
10.1101/gr.129684.111, 3290792, 22300766
-
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res 2012, 22(3):568-576. 10.1101/gr.129684.111, 3290792, 22300766.
-
(2012)
Genome Res
, vol.22
, Issue.3
, 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
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