-
1
-
-
84975742565
-
Amap of human genome variation from populationscale sequencing
-
[1000] Genomes Project Consortium T
-
[1000] Genomes Project Consortium, T. 2010. Amap of human genome variation from populationscale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
2
-
-
79957932376
-
Dindel: Accurate indel calls from shortread data
-
Albers, C.A., Lunter, G., MacArthur, D.G., McVean, G., Ouwehand, W.H., and Durbin, R. 2010. Dindel: Accurate indel calls from shortread data. Genome Res. 21:961-973.
-
(2010)
Genome Res
, vol.21
, pp. 961-973
-
-
Albers, C.A.1
Lunter, G.2
MacArthur, D.G.3
McVean, G.4
Ouwehand, W.H.5
Durbin, R.6
-
3
-
-
79960405019
-
1000 Genomes Project Analysis Group The variant call format and VCFtools
-
Danecek, P., Auton, A., Abecasis, G., Albers, C.A., Banks, E., DePristo, M.A., Handsaker, R.E., Lunter, G., Marth, G.T., Sherry, S.T., McVean, G., and Durbin, R.; 1000 Genomes Project Analysis Group. 2011. The variant call format and VCFtools. Bioinformatics 27: 2156-2158.
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
Auton, A.2
Abecasis, G.3
Albers, C.A.4
Banks, E.5
DePristo, M.A.6
Handsaker, R.E.7
Lunter, G.8
Marth, G.T.9
Sherry, S.T.10
McVean, G.11
Durbin, R.12
-
4
-
-
69949122158
-
VarScan: Variant detection in massively parallel sequencing of individual and pooled samples
-
Koboldt, D.C., Chen, K., Wylie, T., Larson, D.E., McLellan, M.D., Mardis, E.R., Weinstock, G.M., Wilson, R.K., and Ding, L. 2009. VarScan: Variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 25:2283-2285.
-
(2009)
Bioinformatics
, vol.25
, pp. 2283-2285
-
-
Koboldt, D.C.1
Chen, K.2
Wylie, T.3
Larson, D.E.4
McLellan, M.D.5
Mardis, E.R.6
Weinstock, G.M.7
Wilson, R.K.8
Ding, L.9
-
5
-
-
77957272020
-
Challenges of sequencing human genomes
-
Koboldt, D.C., Ding, L., Mardis, E.R., and Wilson, R.K. 2010. Challenges of sequencing human genomes. Brief. Bioinform. 11:484-498.
-
(2010)
Brief. Bioinform.
, vol.11
, pp. 484-498
-
-
Koboldt, D.C.1
Ding, L.2
Mardis, E.R.3
Wilson, R.K.4
-
6
-
-
84863229597
-
VarSca 2 Somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
Koboldt, D.C., Zhang, Q., Larson, D.E., Shen, D., McLellan, M.D., Lin, L., Miller, C.A., Mardis, E.R., Ding, L., andWilson, R.K. 2012a. VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 22:568-576.
-
(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
-
7
-
-
84863037350
-
Massively parallel sequencing approaches for characterization of structural variation
-
Koboldt, D.C., Larson, D.E., Chen, K., Ding, L., and Wilson, R.K. 2012b. Massively parallel sequencing approaches for characterization of structural variation. Methods Mol. Biol. 838:369-384.
-
(2012)
Methods Mol. Biol.
, vol.838
, pp. 369-384
-
-
Koboldt, D.C.1
Larson, D.E.2
Chen, K.3
Ding, L.4
Wilson, R.K.5
-
8
-
-
84856565531
-
Somatic-Sniper: Identification of somatic point mutations in whole genome sequencing data
-
Larson, D.E., Harris, C.C., Chen, K., Koboldt, D.C., Abbott, T.E., Dooling, D.J., Ley, T.J., Mardis, E.R., Wilson, R.K., and Ding, L. 2012. Somatic-Sniper: Identification of somatic point mutations in whole genome sequencing data. Bioinformatics 28: 311-317.
-
(2012)
Bioinformatics
, vol.28
, pp. 311-317
-
-
Larson, D.E.1
Harris, C.C.2
Chen, K.3
Koboldt, D.C.4
Abbott, T.E.5
Dooling, D.J.6
Ley, T.J.7
Mardis, E.R.8
Wilson, R.K.9
Ding, L.10
-
9
-
-
80054915847
-
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
-
Li, H. 2011. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 27:2987-2993.
-
(2011)
Bioinformatics
, vol.27
, pp. 2987-2993
-
-
Li, H.1
-
10
-
-
84868138663
-
A likelihood-based framework for variant calling and de novo mutation detection in families
-
Li, B., Chen, W., Zhan, X., Busonero, F., Sanna, S., Sidore, C., Cucca, F., Kang, H.M., Abecasis, G.R. 2012. A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS Genet. 8:e1002944.
-
(2012)
PLoS Genet
, vol.8
-
-
Li, B.1
Chen, W.2
Zhan, X.3
Busonero, F.4
Sanna, S.5
Sidore, C.6
Cucca, F.7
Kang, H.M.8
Abecasis, G.R.9
-
11
-
-
68549104404
-
1000 Genome Project Data Processing Subgroup The Sequence Alignment/Map format and SAMtools
-
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R.; 1000 Genome Project Data Processing Subgroup. 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
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
12
-
-
66449114324
-
SNP detection formassively parallelwhole-genome resequencing
-
Li, R., Li, Y., Fang, X., Yang, H., Wang, J., Kristiansen, K., and Wang, J. 2009. SNP detection formassively parallelwhole-genome resequencing. Genome Res. 19:1124-1132.
-
(2009)
Genome Res
, vol.19
, pp. 1124-1132
-
-
Li, R.1
Li, Y.2
Fang, X.3
Yang, H.4
Wang, J.5
Kristiansen, K.6
Wang, J.7
-
13
-
-
84871988179
-
SOAPindel: Efficient identification of indels from short paired reads
-
Li, S., Li, R., Li, H., Lu, J., Li, Y., Bolund, L., Schierup, M.H., and Wang, J. 2013. SOAPindel: Efficient identification of indels from short paired reads. Genome Res. 23:195-200.
-
(2013)
Genome Res
, vol.23
, pp. 195-200
-
-
Li, S.1
Li, R.2
Li, H.3
Lu, J.4
Li, Y.5
Bolund, L.6
Schierup, M.H.7
Wang, J.8
-
14
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis, E.R. 2008. Next-generation DNA sequencing methods. Annu. Rev. Genomics Hum. Genet. 9:387-402.
-
(2008)
Annu. Rev. Genomics Hum. Genet.
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
15
-
-
77956295988
-
The Genome Analysis Toolkit:AMapReduce framework for analyzingnext-generation DNA sequencing data
-
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., and DePristo, M.A. 2010. The Genome Analysis Toolkit:AMapReduce framework for analyzingnext-generation DNA sequencing data. Genome Res. 20:1297-1303.
-
(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
DePristo, M.A.11
-
16
-
-
84881085966
-
A survey of tools for variant analysis of next-generation genome sequencing data
-
Jan 21. [Epub ahead of print]
-
Pabinger, S., Dander, A., Fischer, M., Snajder, R., Sperk, M., Efremova, M., Krabichler, B., Speicher, M.R., Zschocke, J., Trajanoski, Z. 2013. A survey of tools for variant analysis of next-generation genome sequencing data. Brief. Bioinform. Jan 21. [Epub ahead of print].
-
(2013)
Brief. Bioinform.
-
-
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.10
-
17
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach, J.C., Glusman, G., Smit, A.F., Huff, C.D., Hubley, R., Shannon, P.T., Rowen, L., Pant, K.P., Goodman, N., Bamshad, M., Shendure, J., Drmanac, R., Jorde, L.B., Hood, L., and Galas, D.J. 2010. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
Shannon, P.T.6
Rowen, L.7
Pant, K.P.8
Goodman, N.9
Bamshad, M.10
Shendure, J.11
Drmanac, R.12
Jorde, L.B.13
Hood, L.14
Galas, D.J.15
-
18
-
-
78651271733
-
Integrative genomics viewer
-
Robinson, J.T., Thorvaldsd́ottir, H., Winckler, W., Guttman, M., Lander, E.S., Getz, G., and Mesirov, J.P. 2011. Integrative genomics viewer. Nat. Biotechnol. 29:24-26.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
Thorvaldsd́ottir, H.2
Winckler, W.3
Guttman, M.4
Lander, E.S.5
Getz, G.6
Mesirov, J.P.7
-
19
-
-
84864153492
-
Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs
-
Saunders, C.T., W.S. Wong, W.S., Swamy, S., Becq, J., Murray, L.J., and Cheetham, R.K. 2012. Strelka: Accurate somatic small-variant calling from sequenced tumor-normal sample pairs. Bioinformatics 28:1811-1817.
-
(2012)
Bioinformatics
, vol.28
, pp. 1811-1817
-
-
Saunders, C.T.1
Wong, W.S.W.S.2
Swamy, S.3
Becq, J.4
Murray, L.J.5
Cheetham, R.K.6
-
20
-
-
75649095276
-
A SNP discovery method to assess variant allele probability from next-generation resequencing data
-
Shen, Y., Wan, Z., Coarfa, C., Drabek, R., Chen, L., Ostrowski, E.A., Liu, Y., Weinstock, G.M., Wheeler, D.A., Gibbs, R.A., and Yu, F. 2010. A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res. 20:273-280.
-
(2010)
Genome Res
, vol.20
, pp. 273-280
-
-
Shen, Y.1
Wan, Z.2
Coarfa, C.3
Drabek, R.4
Chen, L.5
Ostrowski, E.A.6
Liu, Y.7
Weinstock, G.M.8
Wheeler, D.A.9
Gibbs, R.A.10
Yu, F.11
-
21
-
-
84896361731
-
Accurately identifying low-allelic fraction variants in single samples with next-generation sequencing: Applications in tumor subclone resolution
-
Stead, L.F., Sutton, K.M., Taylor, G.R., Quirke, P., and Rabbitts, P. 2013. Accurately identifying low-allelic fraction variants in single samples with next-generation sequencing: Applications in tumor subclone resolution. Hum. Mutat. 20:273-280.
-
(2013)
Hum. Mutat.
, vol.20
, pp. 273-280
-
-
Stead, L.F.1
Sutton, K.M.2
Taylor, G.R.3
Quirke, P.4
Rabbitts, P.5
-
22
-
-
80455129691
-
2011.SNVer:Astatistical tool for variant calling in analysis of pooled or individual nextgeneration sequencing data
-
Wei, Z., Wang, W., Hu, P., Lyon, G.J., and Hakonarson, H. 2011.SNVer:Astatistical tool for variant calling in analysis of pooled or individual nextgeneration sequencing data. Nucleic Acids Res. 39:e132.
-
Nucleic Acids Res
, vol.39
-
-
Wei, Z.1
Wang, W.2
Hu, P.3
Lyon, G.J.4
Hakonarson, H.5
-
23
-
-
70350694443
-
Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
-
Ye, K., Schulz, M.H., Long, Q., Apweiler, R., and Ning, Z. 2009. Pindel: A pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 25:2865-2871
-
(2009)
Bioinformatics
, vol.25
, pp. 2865-2871
-
-
Ye, K.1
Schulz, M.H.2
Long, Q.3
Apweiler, R.4
Ning, Z.5
|