We are interested in investigating a diverse set of questions in anthropology and evolutionary biology using genomic tools.


Our current focus is studying the impact of genomic structural variation to  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. Recent studies have demonstrated that SVs constitute a greater portion of the human genomic variation as compared to single nucleotide variants, and play an important role in human disease and evolution (For instance see this paper ). We believe that SVs represent a huge and unexplored area of evolutionary genomics that is ripe for studies focusing on their impact to human disease and biology. Within this framework, we are currently working on several specific questions:

(i) Investigating the mechanisms of SV formation among primates and their impact on primate genome stability. Representative papers: Gokcumen et al. 2011 and Gokcumen et al. 2013.

(ii) Identifying and scrutinizing adaptive structural variants that contribute to species-specific phenotypes. Representative papers:  Iskow, Gokcumen and Lee 2012,  Gokcumen et al. 2013, Xu et al. 2016.

(iii) Explaining the evolutionary processes that maintain ancient variation (particularly deletion polymorphisms) in contemporary human populations.  (e.g., Lin et al. 2015).

(iv) Local adaptation and impact of culture to genetic variants, especially those that involve skin and saliva. The results of some our previous studies emphasized the value of ethnohistorically contextualized sampling with genome-wide analysis to obtain a more complex understanding of the study populations. We have a new review paper on this with a focus on SVs – Muthukrishnan and Gokcumen, 2015.