Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing profoundly underestimates disease associations
Robert W. Corty, Yash Pershad, Jonathan Brett Heimlich, Caitlyn Vlasschaert, Leo Luo, Taralynn Mack, Kaushik V Amancherla, Cassianne Robinson‐Cohen, Michael Robert Savona, Alexander G. Bick
The paper shows genome or exome sequencing underestimates CHIP-disease associations due to low sensitivity and positive predictive value, requiring deep sequencing for accurate results.
Journal of Clinical Investigation · Jan 13, 2026Peer-reviewedGenetic & Genomic Medicine