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

2026/01/13 by Robert W. Corty, Yash Pershad, J. Brett Heimlich +7 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Acute Myeloid Leukemia Research #Genomics and Rare Diseases #Hemoglobinopathies and Related Disorders

paper · pdf · doi:10.1172/jci198861

openalex publication_date 2026/01/13 · openalex created_date 2026/01/14 · openalex updated_date 2026/06/27

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.

Discussions

• Do we need better ways to detect CHIP? Alexander G. Bick, @yashpershad.bsky.social et al. & team find epidemiology studies underestimate the strength of the association between clonal hematopoiesis & [bsky, 2 points, 0 comments]

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