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Article

Genetic associations of protein-coding variants in human disease.

Nature - 1 Mar 2022

Sun Benjamin B, Kurki Mitja I, Foley Christopher N, Mechakra Asma, Chen Chia-Yen, Marshall Eric, Wilk Jemma B, Chahine Mohamed, Chevalier Philippe, Christé Georges, Palotie Aarno, Daly Mark J, Runz Heiko

Abstract excerpt

Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained largely underpowered in relation to identifying associations in the rare and low-frequency allelic spectrum and have lacked the resolution to trace causal mechanisms to underlying genes1. Here we combined whole-exome sequencing in 392,814 UK Biobank...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35197637
DOI: 10.1038/s41586-022-04394-w
PMCID: PMC8891017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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