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Items: 1 to 20 of 131

1.

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ.

Nat Genet. 2011 May;43(5):491-8. doi: 10.1038/ng.806. Epub 2011 Apr 10.

2.

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data.

Jun G, Wing MK, Abecasis GR, Kang HM.

Genome Res. 2015 Jun;25(6):918-25. doi: 10.1101/gr.176552.114. Epub 2015 Apr 16.

3.

A probabilistic method for the detection and genotyping of small indels from population-scale sequence data.

Bansal V, Libiger O.

Bioinformatics. 2011 Aug 1;27(15):2047-53. doi: 10.1093/bioinformatics/btr344. Epub 2011 Jun 7.

4.

A survey of tools for variant analysis of next-generation genome sequencing data.

Pabinger S, Dander A, Fischer M, Snajder R, Sperk M, Efremova M, Krabichler B, Speicher MR, Zschocke J, Trajanoski Z.

Brief Bioinform. 2014 Mar;15(2):256-78. doi: 10.1093/bib/bbs086. Epub 2013 Jan 21.

5.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

6.

Impact of post-alignment processing in variant discovery from whole exome data.

Tian S, Yan H, Kalmbach M, Slager SL.

BMC Bioinformatics. 2016 Oct 3;17(1):403.

7.

The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.

8.

SNP detection for massively parallel whole-genome resequencing.

Li R, Li Y, Fang X, Yang H, Wang J, Kristiansen K, Wang J.

Genome Res. 2009 Jun;19(6):1124-32. doi: 10.1101/gr.088013.108. Epub 2009 May 6.

9.

Evaluation of variant identification methods for whole genome sequencing data in dairy cattle.

Baes CF, Dolezal MA, Koltes JE, Bapst B, Fritz-Waters E, Jansen S, Flury C, Signer-Hasler H, Stricker C, Fernando R, Fries R, Moll J, Garrick DJ, Reecy JM, Gredler B.

BMC Genomics. 2014 Nov 1;15:948. doi: 10.1186/1471-2164-15-948.

10.

Accurate detection and genotyping of SNPs utilizing population sequencing data.

Bansal V, Harismendy O, Tewhey R, Murray SS, Schork NJ, Topol EJ, Frazer KA.

Genome Res. 2010 Apr;20(4):537-45. doi: 10.1101/gr.100040.109. Epub 2010 Feb 11.

11.

Variant discovery in targeted resequencing using whole genome amplified DNA.

Indap AR, Cole R, Runge CL, Marth GT, Olivier M.

BMC Genomics. 2013 Jul 10;14:468. doi: 10.1186/1471-2164-14-468.

12.

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.

Elsharawy A, Forster M, Schracke N, Keller A, Thomsen I, Petersen BS, Stade B, Stähler P, Schreiber S, Rosenstiel P, Franke A.

BMC Genomics. 2012 Aug 22;13:417. doi: 10.1186/1471-2164-13-417.

13.

Model-based quality assessment and base-calling for second-generation sequencing data.

Bravo HC, Irizarry RA.

Biometrics. 2010 Sep;66(3):665-74. doi: 10.1111/j.1541-0420.2009.01353.x. Review.

14.

A statistical method for the detection of variants from next-generation resequencing of DNA pools.

Bansal V.

Bioinformatics. 2010 Jun 15;26(12):i318-24. doi: 10.1093/bioinformatics/btq214. Erratum in: Bioinformatics. 2016 Oct 15;32(20):3213.

15.

A global reference for human genetic variation.

1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR.

Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.

16.

Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.

Hollegaard MV, Grauholm J, Nielsen R, Grove J, Mandrup S, Hougaard DM.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):65-72. doi: 10.1016/j.ymgme.2013.06.004. Epub 2013 Jun 13.

PMID:
23830478
17.

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.

Rimmer A, Phan H, Mathieson I, Iqbal Z, Twigg SRF; WGS500 Consortium, Wilkie AOM, McVean G, Lunter G.

Nat Genet. 2014 Aug;46(8):912-918. doi: 10.1038/ng.3036. Epub 2014 Jul 13.

18.

Design of association studies with pooled or un-pooled next-generation sequencing data.

Kim SY, Li Y, Guo Y, Li R, Holmkvist J, Hansen T, Pedersen O, Wang J, Nielsen R.

Genet Epidemiol. 2010 Jul;34(5):479-91. doi: 10.1002/gepi.20501.

19.

Comparison of solution-based exome capture methods for next generation sequencing.

Sulonen AM, Ellonen P, Almusa H, Lepistö M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J.

Genome Biol. 2011 Sep 28;12(9):R94. doi: 10.1186/gb-2011-12-9-r94.

20.

Inference of population mutation rate and detection of segregating sites from next-generation sequence data.

Kang CJ, Marjoram P.

Genetics. 2011 Oct;189(2):595-605. doi: 10.1534/genetics.111.130898. Epub 2011 Aug 11.

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