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Article

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.

American journal of human genetics - 6 Aug 2020

Tuke Marcus, Tyrrell Jessica, Ruth Katherine S, Beaumont Robin N, Wood Andrew R, Murray Anna, Frayling Timothy M, Weedon Michael N, Wright Caroline F

Abstract excerpt

Large copy-number variants (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease depends strongly on when and where the mutation occurred, i.e., germline versus somatic. We used microarray data from UK Biobank to investigate the prevalence and penetrance of large autosomal CNVs and chromosomal aneuploidies using a standard CNV detection algorithm not designed for...

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Identifiers

PMID: 32574563
DOI: 10.1016/j.ajhg.2020.06.001
PMCID: PMC7413842

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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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