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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. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Bowles NE, Jou CJ, Arrington CB, Kennedy BJ, Earl A, Matsunami N, Meyers LL, Etheridge SP, Saarel EV, Bleyl SB, Yost HJ, Yandell M, Leppert MF, Tristani-Firouzi M, Gruber PJ; Baylor Hopkins Centers for Mendelian Genomics. Bowles NE, et al. Am J Med Genet A. 2015 Dec;167A(12):2975-84. doi: 10.1002/ajmg.a.37297. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284702 Free PMC article.