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

Corty, Robert; Pershad, Yash; Heimlich, J Brett; Vlasschaert, Caitlyn; Luo, Leo; Mack, Taralynn; Amancherla, Kaushik; Robinson-Cohen, Cassianne et al. · J Clin Invest · 2026

basic_science · Level V

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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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