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

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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Publication Details

Journal
Journal of Clinical Investigation
Published
2026-01-13
DOI
https://doi.org/10.1172/jci198861
Primary Topic
Genomics and Rare Diseases
Type
article
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article

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

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Journal of Clinical Investigation
Genomics and Rare Diseases
article

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

Caitlyn Vlasschaert, K. Amancherla, Robert W. Corty, Michael Robert Savona, Leo Luo, Yash Pershad, Alexander G. Bick, J. Brett Heimlich, Taralynn Mack
article en

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.

Journal of Clinical InvestigationVol. 136(5)
University of Washington (US), Queen's University (CA), Vanderbilt University Medical Center (US)
Zero hunger
Openalex Percentile: Top 89%
Genomics and Rare Diseases
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