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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.

Last updated: April 21, 2022