Stetson Thacker

This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.

The paper identifies two new transcription start regions (TSRs) upstream of the PTEN promoter, expanding its regulatory landscape and suggesting potential clinical implications for PTEN-related disorders.

This study combines deep mutational scanning data with clinical data to link PTEN variants to specific clinical outcomes and risk levels.

This study shows that ADAMTSL2 deletion in limb soft tissues, particularly tendons, causes disproportionate limb shortening by affecting tendon growth and fibrillin microfibril formation, suggesting a new mechanism for geleophysic dysplasia.