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Recent Publications

Advancing genomics for public health

Over the past decade, dramatic advances in genomics have paved the way for a deeper understanding of how genetic and environmental factors influence human and population health. The Institute for Public Health Genetics is at the forefront of this evolving field, providing a multidisciplinary framework to address the scientific, ethical, legal, cultural, and policy implications of genomic discoveries.

Our faculty, students, and alumni are engaged in cutting-edge research to ensure that genomic knowledge translates into meaningful health benefits while minimizing potential harms. This page highlights selected publications that showcase the breadth and impact of IPHG research across multiple domains.

Featured Publications from Faculty, Students, and Alumni

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies - Li X, Chen H, Selvaraj MS, et al., Nature Computational Science, 2025.

Barriers, interventions, and recommendations: Improving the genetic testing landscape - Dusic EJ, Theoryn T, Wang C, Swisher EM, Bowen DJ., Frontiers in Digital Health, 2022.

Early Intervention services in the era of genomic medicine: setting a research agenda - MacDuffie KE, Cohn B, Appelbaum P, et al., Pediatric Research, 2024. 

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation - Gustafson JA, Gibson SB, Damaraju N, et al.,Genome Research, 2024.

MorPhiC Consortium: towards functional characterization of all human genes - Adli M, Przybyla L, Burdett T, et al., Nature, 2025.

Multiomic profiling reveals timing of menopause predicts prefrontal cortex aging and cognitive function - Gunter‐Rahman F, Adams CD, Raju RM, Zhang Y, Lee EA, Messerlian C., Aging Cell, 2024.

Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program - Khan AT, Gogarten SM, McHugh CP, et al., Cell Genomics, 2022.

The power of representation: Statistical analysis of diversity in US Alzheimer’s disease genetics data - Xue D, Blue EE, Conomos MP, Fohner AE., Alzheimer S & Dementia Translational Research & Clinical Interventions, 2024.

Young women’s perspectives on being screened for hereditary breast and ovarian cancer risk during routine primary care - Head M, Cohn B, Wernli KJ, et al., Women S Health Issues, 2024.