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Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing

30 Oct 2023

Abstract excerpt

Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program. We observed higher sensitivity with whole-genome...

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PMID: 37904051
DOI: 10.1038/s41588-023-01553-1

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