Home Department: Computer Science
Supported by: Anonymous Donor
Mentor: Gill Bejerano, Developmental Biology, Computer Science, and Pediatrics

Currently, the Bejerano lab has an effective Mendelian-disease-diagnosing tool, but it still has room for improvement. Cole is working on improving the tool’s knowledge base by finding a way to efficiently search the web for papers that discuss pathogenic Single Nucleotide Variants (SNVs), and loading them into the system to improve future diagnoses.

Poster presented at the Stanford Bio-X Interdisciplinary Initiatives Symposium on August 24, 2017:

Automatic Phenotype Extraction from Medical Records

Cole A. Deisseroth¹, Johannes Birgmeier¹, Jonathan A. Bernstein², Gill Bejerano¹
[Departments of Developmental Biology¹ and Pediatrics², Stanford University]