Understanding the genetic architecture of disease and complex traits

Farhad obtained his PhD from the department of computer science, under supervision of Eleazar Eskin at UCLA. His PhD works involved developing statistical methods to analyze large genomic and genetic datasets. Farhad joined Alkes Price’s lab as a post-doctoral fellow in September 2016. Farhad’s current research interests include understanding the biological mechanism of complex traits as well as the genetic architecture of complex traits by leveraging functional annotations.

We have introduced a new set of functional annotations based on causal posterior probabilities of fine-mapped molecular cis-QTL, using data from the GTEx and BLUEPRINT consortia. We show that these annotations are far more strongly enriched for heritability across large number of independent diseases and complex traits than annotations containing all significant molecular. Notably, eQTL annotations restricted to loss-of-function intolerant genes from ExAC were even more strongly enriched for heritability. All molecular QTL except sQTL remained significantly enriched in a joint analysis, implying that each of these annotations is uniquely informative for disease and complex trait architectures. This is result was accepted to nature genetics.  Moving forward, we are now excited to understand the contribution of repeat elements to the genetic architecture of diseases and complex traits. We have obtained interesting results that have made us excited about this project.