Original paper
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
Abstract
Understanding the role of rare variants is important in elucidating the genetic basis of human disease. Negative selection can cause rare variants to have larger per-allele effect sizes than common variants. Here, we develop a method to estimate the minor allele frequency (MAF) dependence of SNP effect sizes. We use a model in which per-allele effect sizes have variance proportional to [p(1 - p)]α, where p is the MAF and negative values of α...
Paper Details
Title
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
Published Date
Feb 15, 2019
Journal
Volume
10
Issue
1
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Notes
History