Complex Evolutionary Trajectories of Genomic Structural Variants in Human Genomes

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My laboratory focuses on the impact of genomic structural variation in human evolution. Genomic structural variants (SVs) involve differences in copy number (i.e., deletions and duplications), orientation (i.e., inversions) or genomic location (i.e., translocations) of large segments of DNA between individuals. We believe that SVs represent a vast and unexplored area of evolutionary genomics that is ripe for studies focusing on their impact on human disease and biology. The challenge is that the genomic context and functional relevance of SVs vary widely. They can be small (hundreds of base pairs) or large (tens of thousands of base pairs), multi-allelic, exonic, regulatory, or neutrally evolving sequences. They can be in highly complex segmental duplication regions, or they can affect unique sequences. Moreover, cellular and organismal level studies scrutinizing the functional impact of SVs are scant. Combined, this complexity surrounding SVs led to a fascinating array of evolutionary stories involving SVs. I will talk about some of these stories, which include novel examples of rarely observed balancing selection, admixture from archaic hominins into modern humans, and functional loci with exceptionally high mutation rates.


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    Jasmine Martin
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