Article
Integrated detection and population-genetic analysis of SNPs and copy number variation.
Nature genetics - 1 Oct 2008
McCarroll Steven A, Kuruvilla Finny G, Korn Joshua M, Cawley Simon, Nemesh James, Wysoker Alec, Shapero Michael H, de Bakker Paul I W, Maller Julian B, Kirby Andrew, Elliott Amanda L, Parkin Melissa, Hubbell Earl, Webster Teresa, Mei Rui, Veitch James, Collins Patrick J, Handsaker Robert, Lincoln Steve, Nizzari Marcia, Blume John, Jones Keith W, Rava Rich, Daly Mark J, Gabriel Stacey B, Altshuler David
Abstract excerpt
Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number variants (CNVs), and is enabled by accurate maps of their locations, frequencies and population-genetic properties. We designed a hybrid genotyping array (Affymetrix SNP...
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