Rasika A. Mathias

1 month ago | cell.com | Elena V. Kharitonova |Quan Sun |Franklin P. Ockerman |Brian Chen |Laura Zhou |Bjoernar Tuftin | +10 more

1Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA 2Center for Computation and Genomic Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 3Department of Biostatistics and Health Data Science, Indiana University School of Medicine, Indianapolis, IN 46202, USA 4Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA 5Department of Statistics, Florida State University, Tallahassee,...

Jul 16, 2024 | biorxiv.org | Cole Williams |Brooke Scelza |Sarah Slack |Rasika A. Mathias

AbstractAccurate reconstruction of pedigrees from genetic data remains a challenging problem. Pedigree inference algorithms are often trained only on European-descent families in urban locations. Many relationship categories can be difficult to distinguish (e.g. half-sibships versus avuncular) without external information. Furthermore, existing methods perform poorly in endogamous populations for which there may be reticulations within the pedigrees and elevated haplotype sharing.

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.