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Article

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.

American journal of human genetics - 4 Jun 2026

Garg Paras, Jadhav Bharati, Shadrina Mariya, Martin-Trujillo Alejandro, Sharp Andrew J

Abstract excerpt

We developed a read-depth-based approach that allows accurate and scalable copy-number genotyping from genome sequencing data, including mosaic, recurrent, and multiallelic copy-number variants (CNVs) that are difficult to genotype using other methods. We genotyped each 5-kb segment throughout the genome in the UK Biobank cohort and performed phenome-wide association studies (PheWASs) using 13,215 traits under...

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Identifiers

PMID: 42167238
DOI: 10.1016/j.ajhg.2026.04.013
PMCID: PMC13241002

Genes

MC4R
MUC1
NEB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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