Detection of clonal hematopoiesis of indeterminate potential via genome or exome sequencing underestimates disease associations
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
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.
Topics & Concepts
BiologyExome sequencingDiseaseExomeGeneticsGenomeHaematopoiesisIndeterminateWhole genome sequencingGenome-wide association studyDeep sequencingGenetic associationComputational biologyDNA sequencingGenomicsHuman genomeBioinformaticsGenotypeCancer genome sequencingHuman geneticsGenomics and Rare DiseasesAcute Myeloid Leukemia ResearchHemoglobinopathies and Related Disorders