My time in grad school is finally wrapping up, and I’m doing a thesis defense! Check out the info here if you want to attend in person or virtually.

Date:
Tuesday, August 30th, 2022

Time:
1:00 PM – 2:00 PM EST (Open Session)
2:00 PM – 3:00 PM EST (Closed Session)
Reception afterwards with snacks & beverages

Title:
Common and rare genetic effects on the transcriptome and their contribution to human traits

Abstract:
Bridging the gap between genetic variants and functional relevance is a principal goal of human genetics., but interpreting the biological mechanisms that link variants to phenotypes is a continuous challenge. This goal applies to rare and common variants, although the specific challenges vary depending on the variant’s frequency and effect on gene dosage or protein structure. Deciphering these variants’ modes of action is crucial for a more holistic understanding of genome regulation. This dissertation will advance interpretation of rare and common variants across the annotation spectrum, by utilizing functional data derived from population scale RNA-sequencing studies. I aim to answer three main research questions: (1) How do rare variants affect gene expression, and can these subtle changes be robustly detected? (2) How do common variants that influence pre-mRNA splicing influence protein structure and human traits? (3) Can joint effects between common splice-regulatory and rare loss-of-function variants be detected through the lens of purifying selection? All aims build on knowledge acquired through large-scale transcriptomics and open access data. Ultimately, these three studies will contribute to our understanding of genome regulation, which will be crucial in a future of personalized medicine.

Location:
New York Genome Center Events Hall – 1st floor
101 Avenue of the Americas
Enter through the door under the “New York Genome Center” sign:

If you missed the live presentation, you can check out a recording here!