Jayne A. Barbour

The paper identifies non-coding variants in CDKN2B that disrupt CTCF binding, reduce CDKN2A expression, and increase melanoma risk in families.

The paper identifies a TNF-α responsive cryptic promoter driving ERVK-7 overexpression in LUAD, revealing cell-type and inflammatory signal-specific regulation.

The paper identifies how XPD mutations alter somatic mutation patterns in bladder cancer and develops a machine-learning model to predict pathogenic XPD mutations with 100% accuracy in an independent cohort.

LocusMasterTE improves TE expression quantification by integrating long-read and short-read RNA-seq data using an EM algorithm.

The paper evaluates the ability to predict metabolite levels from gene expression in cancer cell lines and finds that gene expression is a poor predictor.

The paper identifies a non-canonical role of DNA mismatch repair (MMR) in repairing methylation damage in non-dividing cells, contributing to mutational signatures in cancer.

The paper analyzes POLE exonuclease domain mutants in colorectal cancer, identifying mutation spectra differences and a specific TP53 mutation enrichment.