Leslie J. Baier

This study generates de novo genome assemblies from two Indigenous Americans, identifies non-reference sequences, and shows they improve variant detection in underrepresented populations.

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.

This study uses whole exome sequencing in 6,716 American Indians to identify metabolic trait-associated variants, finding unique pLOF and nonsynonymous variants linked to BMI, diabetes, and lipid levels.