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Article

Estimation and mapping of the missing heritability of human phenotypes.

Nature - 1 Jan 2026

Wainschtein Pierrick, Zhang Yuanxiang, Schwartzentruber Jeremy, Kassam Irfahan, Sidorenko Julia, Fiziev Petko P, Wang Huanwei, McRae Jeremy, Border Richard, Zaitlen Noah, Sankararaman Sriram, Goddard Michael E, Zeng Jian, Visscher Peter M, Farh Kyle Kai-How, Yengo Loic

Abstract excerpt

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 Biobank2,3 to quantify the relative contribution of 40 million single-nucleotide and short indel variants (with a minor allele...

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PMID: 41225014
DOI: 10.1038/s41586-025-09720-6
PMCID: PMC12851931

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