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Article

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

Nature - 1 Jul 2018

Loh Po-Ru, Genovese Giulio, Handsaker Robert E, Finucane Hilary K, Reshef Yakir A, Palamara Pier Francesco, Birmann Brenda M, Talkowski Michael E, Bakhoum Samuel F, McCarroll Steven A, Price Alkes L

Abstract excerpt

The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, that we uncovered in blood-derived DNA from 151,202 UK Biobank participants using phase-based computational techniques (estimated false discovery rate, 6-9%). We found six loci at which inherited variants associated strongly with the...

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Identifiers

PMID: 29995854
DOI: 10.1038/s41586-018-0321-x
PMCID: PMC6054542

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MPL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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