Journal Articles

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Nature Communications


Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger structural rearrangements called mosaic chromosomal alterations (mCAs). The factors that influence the variations in mCA fitness and ultimately result in different clonal expansion rates are not well understood. We used the Passenger-Approximated Clonal Expansion Rate (PACER) method to estimate clonal expansion rate as PACER scores for 6,381 individuals in the NHLBI toPMed cohort with gain, loss, and copy-neutral loss of heterozygosity mCAs. Our mCA fitness estimates, derived by aggregating per-individual PACER scores, were correlated (R


Humans, Mosaicism, Chromosome Aberrations, Clonal Hematopoiesis, Male, Female, Genome-Wide Association Study, Janus Kinase 2, Telomerase, Loss of Heterozygosity, Cross-Sectional Studies, Mutation, Middle Aged, Hematopoietic Stem Cells, Polymorphism, Single Nucleotide, Aged

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