Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes.

doi:10.1016/j.ajhg.2022.02.012

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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)...

Topics

Gene Frequency
Genome-Wide Association Study
Humans
Multifactorial Inheritance
Phenotype
Polymorphism, Single Nucleotide

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Identifiers

PMID: 35271803
DOI: 10.1016/j.ajhg.2022.02.012
PMCID: PMC9069080

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