Estimation and mapping of the missing heritability of human phenotypes.

ABSTRACT: Rare coding variants shape inter-individual differences in human phenotypes¹. However, the contribution of rare non-coding variants to those differences remains poorly characterized. Here we analyse whole-genome sequence (WGS) data from 347,630 individuals with European ancestry in the UK Biobank^2,3 to quantify the relative contribution of 40 million single-nucleotide and short indel variants (with a minor allele frequency (MAF) larger than 0.01%) to the heritability of 34 complex traits and diseases. On average across phenotypes, we find that WGS captures approximately 88% of the pedigree-based narrow sense heritability: that is, 20% from rare variants (MAF < 1%) and 68% from common variants (MAF ≥ 1%). We show that coding and non-coding genetic variants account for

SUBMITTER: Wainschtein P 

PROVIDER: S-EPMC12851931 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature