Adrienne M. Stilp

May 6, 2024 | nature.com | Yash Pershad |Adrienne M. Stilp |Braxton D. Mitchell |Joshua Lewis |Nathalie Chami |Zhe Wang | +21 more

AbstractClonal 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.

Oct 30, 2023 | nature.com | Yasminka A. Jakubek |Adrienne M. Stilp |Justin Wong |Zuhal Özcan |Kathleen C. Barnes |Joshua C. Bis | +22 more

AbstractMegabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program.