Article

Bayesian copy number detection and association in large-scale studies

2020-01-25

Abstract excerpt

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. We developed an approach called CNPBayes to identify latent batch effects, to provide probabilistic estimates of integer copy number across the estimated batches, and to fully integrate the copy number uncertainty in the association mo...

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Literature Corpus work: 2a00dc3d-b90d-5476-b71d-e5089c140f34
DOI: 10.1101/2020.01.24.918672

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