U01 HG005208/HG/NHGRI NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2010	2
2011	6
2012	5
2017	1
2021	0

1

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. 1000 Genomes Project Consortium, et al. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Nature. 2010. PMID: 20981092 Free PMC article.

2

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. DePristo MA, et al. Nat Genet. 2011 May;43(5):491-8. doi: 10.1038/ng.806. Epub 2011 Apr 10. Nat Genet. 2011. PMID: 21478889 Free PMC article.

3

The variant call format and VCFtools.

Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 Free PMC article.

4

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. McKenna A, et al. Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19. Genome Res. 2010. PMID: 20644199 Free PMC article.

5

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, Daly MJ, Bustamante CD, Kenny EE. Martin AR, et al. Am J Hum Genet. 2017 Apr 6;100(4):635-649. doi: 10.1016/j.ajhg.2017.03.004. Epub 2017 Mar 30. Am J Hum Genet. 2017. PMID: 28366442 Free PMC article.

6

An integrated map of genetic variation from 1,092 human genomes.

1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.

7

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.

Li H. Li H. Bioinformatics. 2011 Nov 1;27(21):2987-93. doi: 10.1093/bioinformatics/btr509. Epub 2011 Sep 8. Bioinformatics. 2011. PMID: 21903627 Free PMC article.

8

Improving SNP discovery by base alignment quality.

Li H. Li H. Bioinformatics. 2011 Apr 15;27(8):1157-8. doi: 10.1093/bioinformatics/btr076. Epub 2011 Feb 13. Bioinformatics. 2011. PMID: 21320865 Free PMC article.

9

Structural haplotypes and recent evolution of the human 17q21.31 region.

Boettger LM, Handsaker RE, Zody MC, McCarroll SA. Boettger LM, et al. Nat Genet. 2012 Jul 1;44(8):881-5. doi: 10.1038/ng.2334. Nat Genet. 2012. PMID: 22751096 Free PMC article.

10

Tabix: fast retrieval of sequence features from generic TAB-delimited files.

Li H. Li H. Bioinformatics. 2011 Mar 1;27(5):718-9. doi: 10.1093/bioinformatics/btq671. Epub 2011 Jan 5. Bioinformatics. 2011. PMID: 21208982 Free PMC article.

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