articleJournal of Clinical InvestigationJan 13, 2026GOLD OA

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

Vanderbilt University Medical Center · Queen's University · +1 more institution

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Abstract

Epidemiology studies underestimate the strength of the association between clonal hematopoiesis and disease due to false negatives from shallow, whole-genome sequencing versus deep targeted sequencing.

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10

Topics & keywords

Keywords
  • Exome sequencing
  • Disease
  • Exome
  • Genome
  • Haematopoiesis
  • Indeterminate
  • Whole genome sequencing
  • Genome-wide association study
UN Sustainable Development Goals
  • Zero hunger
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