Alun Thomas

The paper evaluates the performance of functional assays and computational tools in classifying BRCA1 missense variants using a Bayesian framework and empirical validation.

Deletions of conserved cis-elements tied to hibernator evolution causes diverse metabolic traits in mice.

The paper develops and validates a mammalian 2-hybrid assay to classify BRCA1 RING domain missense substitutions, finding 20% are pathogenic and classifying 89% of observed variants.

The paper reparameterizes PAM50 gene expression into tumor dimensions and identifies a breast cancer susceptibility locus at 12q15 through genetic analysis of high-risk pedigrees.

This paper introduces a new pedigree analysis method to identify risk variants for complex diseases, applying it to Multiple Myeloma and finding two genes associated with DNA repair and chromatin remodeling.