Bayesian copy number detection and association in large-scale studies

Abstract 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 bet...

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Main Authors: Stephen Cristiano, David McKean, Jacob Carey, Paige Bracci, Paul Brennan, Michael Chou, Mengmeng Du, Steven Gallinger, Michael G. Goggins, Manal M. Hassan, Rayjean J. Hung, Robert C. Kurtz, Donghui Li, Lingeng Lu, Rachel Neale, Sara Olson, Gloria Petersen, Kari G. Rabe, Jack Fu, Harvey Risch, Gary L. Rosner, Ingo Ruczinski, Alison P. Klein, Robert B. Scharpf
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Cancer
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12885-020-07304-3