Shilpa Kobren

Shilpa Kobren's research centers around developing computational methods to analyze genome sequencing data in the context of other ‘omics and clinical data to prioritize and functionally interpret genetic variants with roles in human disease. She focuses primarily on uncovering elusive genetic underpinnings of health conditions such as cancer, Mendelian disorders, and unexpected treatment responders. Pinpointing disease-relevant genetic variants that defy detection can shine a light on the limits of our biological and medical knowledge and requires the development of computationally tractable and interpretable models that integrate high-throughput functionality data, population-level 'omics data, and patient health data.

She chairs the bioinformatics working group in the Undiagnosed Diseases Network, teaches about genome sequencing analysis for rare disease diagnosis, and mentors and advises undergraduate, Master's, and PhD students on their research projects.