David Stern

Prioritizing embryos with lower homozygosity may reduce disease risk in children of related individuals undergoing preimplantation genetic testing

This paper proposes using embryo-level autozygosity as a biomarker to prioritize embryos with lower disease risk in preimplantation genetic testing for couples with consanguinity.

ImputePGTA: accurate embryo genotyping and polygenic scoring from ultra-low-pass sequencing

ImputePGTA improves embryo genotyping and polygenic scoring from ultra-low-pass sequencing by jointly inferring inheritance and parental haplotype phasing.

Comparative Evaluation of Cross-Ancestry Polygenic Risk Scoring of Type 1 Diabetes in the All of Us Cohort

This study develops and evaluates HLA-ARC, a polygenic risk score for type 1 diabetes, showing improved performance over existing methods in diverse ancestry groups.

Development and validation of polygenic scores for within-family prediction of disease risks

This paper develops and validates polygenic scores for within-family disease risk prediction, showing strong performance across ancestries and demonstrating their clinical utility in embryo screening.