Angela Wei

The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.

The paper investigates why carriers of pathogenic variants in monogenic metabolic conditions show variable disease severity, finding support for variant effect sizes, polygenic backgrounds, and epistasis.

This study identifies KAT6A mutations in ARTHS patients and shows their role in epigenetic regulation of the posterior HOXC cluster through chromatin accessibility, histone acetylation, and DNA methylation changes.

The paper identifies how ASXL1 mutations disrupt the epigenome and activate Wnt signaling pathways in Bohring-Opitz syndrome and myeloid leukemias.

DMRscaler identifies differential methylation regions across various epigenetic scales in DNA methylation data, outperforming existing methods in accuracy and range.