Article
Bayesian copy number detection and association in large-scale studies.
BMC cancer - 7 Sept 2020
Cristiano Stephen, McKean David, Carey Jacob, Bracci Paige, Brennan Paul, Chou Michael, Du Mengmeng, Gallinger Steven, Goggins Michael G, Hassan Manal M, Hung Rayjean J, Kurtz Robert C, Li Donghui, Lu Lingeng, Neale Rachel, Olson Sara, Petersen Gloria, Rabe Kari G, Fu Jack, Risch Harvey, Rosner Gary L, Ruczinski Ingo, Klein Alison P, Scharpf Robert B
Abstract excerpt
BACKGROUND: Germline copy number variants (CNVs) increase risk for many diseases, yet detection of CNVs and quantifying their contribution to disease risk in large-scale studies is challenging due to biological and technical sources of heterogeneity that vary across the genome within and between samples. METHODS: We developed an approach called CNPBayes to identify latent batch effects in genome-wide association...
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