Work

Systematic comparison of phenome-wide admixture mapping and genome-wide association at biobank-scale

Year: 2026

Type: article

Study design: Observational Study

Abstract: Biobank-scale association studies that include Hispanic/Latino(a) (HL) and African American (AA) populations remain underrepresented, limiting the discovery of disease associated genetic factors in these groups. We present here a systematic comparison of phenome-wide admixture mapping (AM) and genome-wide association (GWAS) using data from the diverse Bio Me biobank in New York City. Our analysis highlights 77 genome-wide significant AM signals, 48 of which were not detected by GWAS, emphasizing the complementary nature of these two approaches. AM-tagged variants show significantly higher minor allele frequency and population differentiation (Fst) while GWAS demonstrated higher odds ratios, underscoring the distinct genetic architecture identified by each method. This study offers a comprehensive phenome-wide AM resource, demonstrating its utility in uncovering novel genetic associations in underrepresented populations, particularly for variants missed by traditional GWAS approaches.

Source: Nature Communications

DOI: 10.1038/s41467-026-76694-y

Authors: Sinead Cullina, Ruhollah Shemirani, Zhuozheng Shi, Ravi Mandla, Bogdan Pasaniuc, Samira Asgari, Eimear E. Kenny

Institutions: Icahn School of Medicine at Mount Sinai, University of Pennsylvania

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDGs: Good health and well-being, Reduced inequalities

Open Access status: gold

Estimated APC paid: $6,990

Funders: Georgia Clinical and Translational Science Alliance, National Institutes of Health, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Center for Advancing Translational Sciences, National Institute on Minority Health and Health Disparities

Awards: Identifying genetic and sociodemographic determinants of susceptibility to infectious diseases in diverse population groups, Genomic risk in clinic care to promote health equity in New York City patients, G3194319764, Polygenic Risk Scores for Diverse Populations - Bridging Research and Clinical Care, Big Omics Data Engine 2 Supercomputer, Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems, PAGE III: Population Architecture using Genomics and Epidemiology, G6177305277, COVID and Translational Science supercomputer (CATS), G8556467429, Conduits: Mount Sinai Health System Translational Science Hub, Center for Human Genome Reference Diversity, PRS Center for Admixed Populations

OpenAlex ID: W7214183950

FWCI: 6.267

Cites: 70

Cited by: 2

Related to: 10