Research

My research lies at the intersection of genetics and data science. I am interested in human genetic variation: between populations and within populations. How much genetic variation do we see in Indian populations? And how much of this genetic variation has any impact on biology?

I work on both arms of human genomics experimental design–family-based studies looking at rare variation, and large population cohorts that identify common trait-associated variation.

I have worked with the Million Veterans Program, the Global Lipids Consortium, the Genotype-Tissue Expression project, and various disease-focused consortia to identify trait-associated genes and signals. I am currently characterizing gene regulation in the Amish population.

I’m also interested in collaborating with biologists to use bioinformatic approaches to understand questions about gene and genome function.

Ongoing projects:

Long-read sequencing for structural variant detection autism-spectrum disorders (in collaboration with Dr Harsh Sheth).

Using Oxford Minion long-read sequencing, we are looking for pathogenic structural variants responsible for severe instances of autism spectrum disorders.

Regulatory mechanisms of human gene classes

Grants/Funding

You can find my full list of publications on my Google Scholar profile.