Yasminka A. Jakubek

The paper identifies contextual biases in the SegmentNT model, showing how input sequence length and nucleotide position affect predictions and suggests ways to mitigate these biases.

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

The paper develops a method to quantify somatic mutation burden in whole-genome sequencing data without paired-tissue samples and identifies genetic and phenotypic correlates of clonal hematopoiesis without known driver mutations.

The paper estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

This study uses whole-genome sequencing to analyze mosaic chromosomal alterations across diverse ancestries, finding higher rates in certain populations and associations with germline variants.

The paper analyzes allelic imbalance across 33 tumor types using haplotype-based methods on TCGA data, finding high prevalence of AI and recurrent chromosomal aberrations.