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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. Among authors: altshuler d. 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.
Detection of regulatory variation in mouse genes.
Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Cowles CR, et al. Among authors: altshuler d. Nat Genet. 2002 Nov;32(3):432-7. doi: 10.1038/ng992. Epub 2002 Oct 15. Nat Genet. 2002. PMID: 12410233
Quality and completeness of SNP databases.
Reich DE, Gabriel SB, Altshuler D. Reich DE, et al. Among authors: altshuler d. Nat Genet. 2003 Apr;33(4):457-8. doi: 10.1038/ng1133. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652301
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC. Mootha VK, et al. Among authors: altshuler d. Nat Genet. 2003 Jul;34(3):267-73. doi: 10.1038/ng1180. Nat Genet. 2003. PMID: 12808457
Assessing the impact of population stratification on genetic association studies.
Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D. Freedman ML, et al. Among authors: altshuler d. Nat Genet. 2004 Apr;36(4):388-93. doi: 10.1038/ng1333. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052270
Methods for high-density admixture mapping of disease genes.
Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D, Daly MJ, Reich D. Patterson N, et al. Among authors: altshuler d. Am J Hum Genet. 2004 May;74(5):979-1000. doi: 10.1086/420871. Epub 2004 Apr 14. Am J Hum Genet. 2004. PMID: 15088269 Free PMC article.
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes.
Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L. Florez JC, et al. Among authors: altshuler d. Diabetes. 2004 Dec;53(12):3313-8. doi: 10.2337/diabetes.53.12.3313. Diabetes. 2004. PMID: 15561965
490 results