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

Journal of Clinical Investigation 2026 Open access

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Authors: Robert W. Corty, Yash Pershad, J. Brett Heimlich, Caitlyn Vlasschaert, Leo Luo, Taralynn Mack, K. Amancherla, Cassianne Robinson‐Cohen, Michael R. Savona, Alexander G. Bick
DOI: 10.1172/jci198861
Cited by: 10
References: 5

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.

Fields of Study & Subjects

Genomics and Rare Diseases Acute Myeloid Leukemia Research Hemoglobinopathies and Related Disorders

Publication details

Journal / source
Journal of Clinical Investigation
Publisher
American Society for Clinical Investigation
Volume
136
Issue
5
Publication date
13 January 2026
Language
EN