Article
Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.
American journal of human genetics - 7 Apr 2022
Burch Kathryn S, Hou Kangcheng, Ding Yi, Wang Yifei, Gazal Steven, Shi Huwenbo, Pasaniuc Bogdan
Abstract excerpt
Recent works have shown that SNP heritability-which is dominated by low-effect common variants-may not be the most relevant quantity for localizing high-effect/critical disease genes. Here, we introduce methods to estimate the proportion of phenotypic variance explained by a given assignment of SNPs to a single gene ("gene-level heritability"). We partition gene-level heritability by minor allele frequency (MAF)...
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