NHGRI Extramural Scientific Areas of Emphasis and Program Contacts: Search
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Population and Comparative Genomics
Comparative Genomics
Use of comparative genomics and evolutionary biology approaches to associate genomic regions or elements with phenotypic traits, elucidate their function and understand their role in disease. Includes improvements in the way genomes, transcriptomes and epigenomes of model and non-model organisms are annotated. 
Population Genetics
Improvement of the methods, approaches and tools to analyze population genomic phenomena in relation to human health and disease, including selection, recombination patterns, molecular evolution, haplotype phasing and imputation.
Genomics of Disease
Functional Characterization of Variants
Development of generalizable approaches to study how genetic variants lead to differences in molecular and cellular function and how such functional differences affect human health and disease processes.
Development of generalizable approaches to study how genetic variants lead to differences in molecular and cellular function and how such functional differences affect human health and disease processes.
Genomic Epidemiology and Statistical Genomics
Improvement of methods, approaches and tools for genome-wide association studies or polygenic risk assessments of complex traits. Includes approaches that address confounders or effect modifiers, and approaches to analyze ancestrally diverse populations.
Improvement of methods, approaches and tools for genome-wide association studies or polygenic risk assessments of complex traits. Includes approaches that address confounders or effect modifiers, and approaches to analyze ancestrally diverse populations.
Last updated: April 21, 2022