Awarded in 2017
Home Department: Computer Science
Faculty Advisors: Gill Bejerano (Developmental Biology, Computer Science, Pediatrics) and Jonathan Bernstein (Pediatrics - Medical Genetics)
Research Title: Continuous Reanalysis of Undiagnosed Patients with Mendelian Diseases
Research Description: The comprehensive clinical interpretation of genome sequencing data is very time-consuming, taking 40-200 hours per case. The diagnosis of rare genetic diseases often requires an in-depth literature review to understand how a patient's genetic variants may be related to their phenotype. There are already roughly 5,000 Mendelian diseases with known causative mutations in roughly 3,500 different genes, and new literature linking genes to diseases is published every week. Johannes proposes to use machine-learning and text-mining techniques to speed up analysis of undiagnosed patients. This project enables Johannes to capture the way clinicians can diagnose patients using automated algorithms.
Johannes is working for Citadel Securities in Zurich.