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Oxford Nanopore Technologies

Shilpa Kobren

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Job title
Institution
Harvard Medical School, USA
Biography

Dr. Shilpa Kobren is a researcher at the Data Management and Coordinating Center (DMCC) for the Undiagnosed Diseases Network (UDN) and the Associate Director of Rare Disease Analysis in the Department of Biomedical Informatics at Harvard University. She develops methods for identifying and determining the statistical significance of potentially etiological non-coding variants and genes recurrently harboring de novo variants or inherited variant pairs across patient cohorts. Dr. Kobren chairs the Tool Building Coalition bioinformatics working group across UDN sites, teaches genome sequencing analyses, and works to improve computational workflows for integrating clinical patient data with sequencing information to uncover disease-causing variants.

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