Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.
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ABSTRACT:
SUBMITTER: Loh PR
PROVIDER: S-EPMC6054542 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
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Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.
Loh Po-Ru PR Genovese Giulio G Handsaker Robert E RE Finucane Hilary K HK Reshef Yakir A YA Palamara Pier Francesco PF Birmann Brenda M BM Talkowski Michael E ME Bakhoum Samuel F SF McCarroll Steven A SA Price Alkes L AL
Nature 20180711 7714
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 acquisition of deletions or loss of heterozygosity in cis. At three such loci (MPL, T ...[more]
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