Emily R. Soper

This study links genomic data with EHRs to identify health outcomes enriched in sub-populations, revealing both known and novel associations.

This paper reports on a pilot genomic screening program in a diverse population, finding higher return rates for hATTR results in African/African American and Hispanic/Latinx participants.

The paper uses exome sequencing and EHR data to find BRCA1/2 pathogenic variants in a diverse biobank population, revealing high prevalence in certain ancestry groups and gaps in knowledge for non-European populations.