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Article

Influences of rare copy-number variation on human complex traits.

Cell - 27 Oct 2022

Hujoel Margaux L A, Sherman Maxwell A, Barton Alison R, Mukamel Ronen E, Sankaran Vijay G, Terao Chikashi, Loh Po-Ru

Abstract excerpt

The human genome contains hundreds of thousands of regions harboring copy-number variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown because only larger CNVs have been ascertainable from SNP-array data generated by large biobanks. We developed a computational approach leveraging haplotype sharing in biobank cohorts to more sensitively detect CNVs. Applied to UK Biobank, this...

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Share to DNA Copy Number Variations
Share to Genome, Human
Share to Multifactorial Inheritance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Share to Quantitative Trait Loci

Source

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Identifiers

PMID: 36306736
DOI: 10.1016/j.cell.2022.09.028
PMCID: PMC9800003

Provenance

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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