Related Experiment Video
Updated: Oct 15, 2026

Generating the Transcriptional Regulation View of Transcriptomic Features for Prediction Task and Dark Biomarker Detection on Small Datasets
Published on: March 1, 2024
Identity-by-descent captures shared environmental factors at biobank scale
Franco Marsico1,2, Silvia Buonaiuto3, Ernestine K Amos-Abanyie3
1Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA; vcolonna@uthsc.edu fmarsic1@uthsc.edu.
Abstract:
Genealogical ties leave traces beyond shared genetic material: relatives tend to share environmental exposures and cultural practices that persist across generations. Here, using genomic and electronic health record data from 13,143 individuals in the Biorepository and Integrative Genomics, we apply a hierarchical community detection algorithm that groups individuals into four major communities and 17 subcommunities based on the proportion of their genome shared identity-by-descent (IBD). This approach captures a fine-scale demographic structure beyond traditional ancestry classifications. By integrating neighborhood-level geographic data with census-derived environmental metrics, we reveal unequal exposure to environmental stressors between subcommunities, which correlates with differential rates of health conditions, including elevated respiratory condition prevalence in subcommunities under greater pollution burden. Through an interventional mediation analysis we find that a substantial part of the excess subcommunity-level risk remains unexplained by measured environmental factors alone, consistent with a contribution of unmeasured shared exposures captured by IBD-based grouping. Subcommunity-level disparities persist in sensitivity analyses adjusting for self-reported race, indicating that IBD-based clustering captures health-relevant information beyond demographic categories commonly used as proxies for social determinants of health. We implement an open-source dashboard for interactive exploration of IBD-defined communities, disease prevalence, and environmental exposures. Together, we demonstrate that IBD-based clustering jointly captures genetic and environmental determinants of health, offering a scalable framework for precision health and population genetics that translates biobank data into actionable insights.
Related Concept Videos
Pedigree Analysis
Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Gene-Environment Interactions
Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Polygenic Traits
Heritability
