-
1
-
-
84855566198
-
Performance comparison of whole-genome sequencing platforms
-
Lam HYK, Clark MJ, Chen R, Chen R, Natsoulis G, O'Huallachain M, et al. Performance comparison of whole-genome sequencing platforms. Nature Biotechnology. 2012; 30:78-82. Available from: http://dx. doi.org/10.1038/nbt.2065
-
(2012)
Nature Biotechnology.
, vol.30
, pp. 78-82
-
-
Lam, H.Y.K.1
Clark, M.J.2
Chen, R.3
Chen, R.4
Natsoulis, G.5
O'Huallachain, M.6
-
2
-
-
84860756398
-
Performance comparison of benchtop high-throughput sequencing platforms
-
May PMID: 22522955
-
Loman NJ, Misra RV, Dallman TJ, Constantinidou C, Gharbia SE, Wain J, et al. Performance comparison of benchtop high-throughput sequencing platforms. Nature Biotechnology. 2012 May; 30:434-439. Available from: http://dx.doi.org/10.1038/nbt.2198 doi: 10.1038/nbt0612-562f PMID: 22522955
-
(2012)
Nature Biotechnology.
, vol.30
, pp. 434-439
-
-
Loman, N.J.1
Misra, R.V.2
Dallman, T.J.3
Constantinidou, C.4
Gharbia, S.E.5
Wain, J.6
-
3
-
-
84897387657
-
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
-
Mar Available from: PMID: 24531798
-
Zook JM, Chapman B, Wang J, Mittelman D, Hofmann O, Hide W, et al. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat Biotechnol. 2014 Mar; 32(3):246-251. Available from: http://dx.doi.org/10.1038/nbt.2835 PMID: 24531798
-
(2014)
Nat Biotechnol.
, vol.32
, Issue.3
, pp. 246-251
-
-
Zook, J.M.1
Chapman, B.2
Wang, J.3
Mittelman, D.4
Hofmann, O.5
Hide, W.6
-
4
-
-
84920811347
-
Whole genome sequencing of 16 Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa
-
Nov PMID: 25376095
-
Alkan C, Kavak P, Somel M, Gokcumen O, Uʇurlu S, Saygi C, et al. Whole genome sequencing of 16 Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa. BMC Genomics. 2014 Nov; 15(963). Available from: http://www.biomedcentral.com/1471-2164/15/963 doi: 10.1186/1471-2164-15-963 PMID: 25376095
-
(2014)
BMC Genomics
, vol.15
, Issue.963
-
-
Alkan, C.1
Kavak, P.2
Somel, M.3
Gokcumen, O.4
Uʇurlu, S.5
Saygi, C.6
-
5
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
May PMID: 21478889
-
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature genetics. 2011 May; 43 (5):491-498. Available from: http://dx.doi.org/10.1038/ng.806 PMID: 21478889
-
(2011)
Nature Genetics
, vol.43
, Issue.5
, pp. 491-498
-
-
DePristo, Ma.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
-
6
-
-
67649884743
-
Fast and accurate short read alignment with burrows-wheeler transform
-
Jul PMID: 19451168
-
Li H, Durbin R. Fast and Accurate Short Read Alignment with Burrows-Wheeler Transform. Bioinformatics. 2009 Jul; 25(14):1754-1760. Available from: http://dx.doi.org/10.1093/bioinformatics/btp324 PMID: 19451168
-
(2009)
Bioinformatics.
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
7
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
May PMID: 19505943
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009 May; 25(16):2078-2079. Available from: http://dx.doi.org/10. 1093/bioinformatics/btp352 PMID: 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
-
8
-
-
77951770756
-
BEDTools: A flexible suite of utilities for comparing genomic features
-
Mar PMID: 20110278
-
Quinlan AR, Hall IM. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010 Mar; 26(6):841-842. Available from: http://dx.doi.org/10.1093/bioinformatics/btq033 PMID: 20110278
-
(2010)
Bioinformatics.
, vol.26
, Issue.6
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
10
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
PMID: 20601685
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research. 2010; 38(16):e164. Available from: http://dx.doi.org/10. 1093/nar/gkq603 PMID: 20601685
-
(2010)
Nucleic Acids Research.
, vol.38
, Issue.16
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
11
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Nov PMID: 23128226
-
1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 Nov; 491(7422):56-65. Available from: http://dx.doi.org/10.1038/nature11632 PMID: 23128226
-
(2012)
Nature.
, vol.491
, Issue.7422
, pp. 56-65
-
-
Genomes, P.C.1
-
12
-
-
69749108657
-
The clinseq project: Piloting large-scale genome sequencing for research in genomic medicine
-
Sep PMID: 19602640
-
Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009 Sep; 19(9):1665-1674. Available from: http://dx.doi.org/10.1101/gr.092841.109 PMID: 19602640
-
(2009)
Genome Res.
, vol.19
, Issue.9
, pp. 1665-1674
-
-
Biesecker, L.G.1
Mullikin, J.C.2
Facio, F.M.3
Turner, C.4
Cherukuri, P.F.5
Blakesley, R.W.6
|