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Items: 1 to 20 of 100

1.

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.

2.

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.

3.

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.

Ramos E, Levinson BT, Chasnoff S, Hughes A, Young AL, Thornton K, Li A, Vallania FL, Province M, Druley TE.

BMC Genomics. 2012 Dec 6;13:683. doi: 10.1186/1471-2164-13-683.

4.

Imputation-based assessment of next generation rare exome variant arrays.

Martin AR, Tse G, Bustamante CD, Kenny EE.

Pac Symp Biocomput. 2014:241-52.

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.

Implication of next-generation sequencing on association studies.

Siu H, Zhu Y, Jin L, Xiong M.

BMC Genomics. 2011 Jun 17;12:322. doi: 10.1186/1471-2164-12-322.

7.

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.

8.

Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.

Das A, Panitz F, Gregersen VR, Bendixen C, Holm LE.

BMC Genomics. 2015 Dec 9;16:1043. doi: 10.1186/s12864-015-2249-y.

9.

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.

10.

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA.

Genome Biol. 2011 Jul 25;12(7):R68. doi: 10.1186/gb-2011-12-7-r68.

11.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

12.

Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis.

Niranjan TS, Adamczyk A, Bravo HC, Taub MA, Wheelan SJ, Irizarry R, Wang T.

Genome Biol. 2011 Sep 28;12(9):R93. doi: 10.1186/gb-2011-12-9-r93.

13.

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.

Cirulli ET, Singh A, Shianna KV, Ge D, Smith JP, Maia JM, Heinzen EL, Goedert JJ, Goldstein DB; Center for HIV/AIDS Vaccine Immunology (CHAVI)..

Genome Biol. 2010;11(5):R57. doi: 10.1186/gb-2010-11-5-r57. Epub 2010 May 28.

14.

The characterization of twenty sequenced human genomes.

Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB.

PLoS Genet. 2010 Sep 9;6(9):e1001111. doi: 10.1371/journal.pgen.1001111.

15.

Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing.

ElSharawy A, Warner J, Olson J, Forster M, Schilhabel MB, Link DR, Rose-John S, Schreiber S, Rosenstiel P, Brayer J, Franke A.

BMC Genomics. 2012 Sep 20;13:500. doi: 10.1186/1471-2164-13-500.

16.

iCall: a genotype-calling algorithm for rare, low-frequency and common variants on the Illumina exome array.

Zhou J, Tantoso E, Wong LP, Ong RT, Bei JX, Li Y, Liu J, Khor CC, Teo YY.

Bioinformatics. 2014 Jun 15;30(12):1714-20. doi: 10.1093/bioinformatics/btu107. Epub 2014 Feb 23.

PMID:
24567545
17.

A novel genome-information content-based statistic for genome-wide association analysis designed for next-generation sequencing data.

Luo L, Zhu Y, Xiong M.

J Comput Biol. 2012 Jun;19(6):731-44. doi: 10.1089/cmb.2012.0035. Epub 2012 May 31.

18.

Large-scale genotyping of complex DNA.

Kennedy GC, Matsuzaki H, Dong S, Liu WM, Huang J, Liu G, Su X, Cao M, Chen W, Zhang J, Liu W, Yang G, Di X, Ryder T, He Z, Surti U, Phillips MS, Boyce-Jacino MT, Fodor SP, Jones KW.

Nat Biotechnol. 2003 Oct;21(10):1233-7. Epub 2003 Sep 7.

PMID:
12960966
19.

Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome.

Saintenac C, Jiang D, Akhunov ED.

Genome Biol. 2011 Sep 14;12(9):R88. doi: 10.1186/gb-2011-12-9-r88.

20.

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

Shen H, Li J, Zhang J, Xu C, Jiang Y, Wu Z, Zhao F, Liao L, Chen J, Lin Y, Tian Q, Papasian CJ, Deng HW.

PLoS One. 2013;8(4):e59494. doi: 10.1371/journal.pone.0059494. Epub 2013 Apr 5.

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