Sinéad Cullina

The paper uses admixture mapping in the All of Us Research Program to identify genetic ancestry associations with 22 traits, finding 71 novel loci where African ancestry explains phenotypic variation.

SPC improves population structure adjustment in genomic analysis by capturing fine-scale patterns better than principal components, reducing p-value inflation and improving rare variant associations.

The paper investigates why carriers of pathogenic variants in monogenic metabolic conditions show variable disease severity, finding support for variant effect sizes, polygenic backgrounds, and epistasis.

This study compares phenome-wide admixture mapping and genome-wide association in a diverse biobank, finding 77 significant AM signals, 48 missed by GWAS.

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

The paper identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

The paper identifies a risk variant for liver disease in Puerto Ricans by integrating EHR and genomic data, showing a dose-dependent association with disease severity.

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.