Peter Dornbos

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

A combined polygenic score of 21,293 rare and 22 common variants significantly improves diabetes diagnosis based on hemoglobin A1C levels

The paper develops a polygenic score incorporating rare and common variants to improve diabetes diagnosis using HbA1C levels, identifying more undiagnosed cases than chance.

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.