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Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing profoundly underestimates disease associations

2025-08-16

Abstract excerpt

Clonal hematopoiesis of indeterminate potential (CHIP) occurs when at least 4% of blood cells harbor somatic mutations in leukemogenic genes and is associated with increased risk for cardiovascular disease, malignancy, and mortality. While deep sequencing (>1,000x coverage) is the gold standard for CHIP detection, most large-scale studies rely on shallow genome/exome sequencing (∼35x coverage) from biobanks. Howev...

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Literature Corpus work
8fcd49af-14c9-5077-9813-d9f009effcf4
DOI
10.1101/2025.08.11.25333294
Open publication

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Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing profoundly underestimates disease associationsDOI 10.1101/2025.08.11.25333294
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