Leland E. Hull

This paper constructs phenome-derived polygenic scores and evaluates how they, along with social determinants of health, influence disease risk across different populations and diseases.

Cross-trait Elastic Net mixing of PGS Catalog scores (PRSmix+) lifted mean PRS accuracy 1.72-fold in Europeans and 1.42-fold in South Asians over the best single score.

A pooled electronic consultation program improved access to genetics specialists by triaging 153 requests and providing actionable recommendations in 3.2 days on average.

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.