Janet E. Olson

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

This study integrates genotype, epigenome, and phenotype data to show immune cells contribute to bipolar disorder pathogenesis, heterogeneity, and therapy through epigenomic and genetic mechanisms.

UNISOM improves CHIP detection from low-coverage sequencing data by combining variant calling with machine learning classification, identifying low-VAF mutations with high sensitivity.

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.