Xiaohong Rose Yang

This paper introduces SATS, a framework for mutational signature analysis in targeted sequencing data, and presents a pan-cancer catalogue of mutational signatures from 111,711 tumors.

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

SUITOR selects the optimal number of mutational signatures using cross-validation, improving accuracy over existing methods in cancer genomics.

The paper identifies a novel NRAS variant in a melanoma-prone family and shows it impairs MAPK/AKT signaling while enhancing PI3K signaling.

The paper identifies three immune subtypes in luminal breast cancer through immune gene expression profiling and links them to distinct genomic and clinical features.