Johannes Birgmeier

Johannes Birgmeier

Stanford University
Computer Science

Computational Genomics
Natural Language Processing
Machine Learning

I'm a 5th year PhD candidate in CS. I received a BS and MS in Computer Science from the Vienna University of Technology in Vienna, Austria. I'm working in Gill Bejerano's group on the integration of genomic data and text mining tools. My current project focuses on solving Mendelian diseases and hypothesis generation/prioritization for experimental research.


  • Beckman Center, Room B321A
    279 Campus Drive
    Stanford, CA 94305
  • Email: first letter of first name + first 7 letters of last name at

Selected Publications

Google Scholar

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
Karthik A. Jagadeesh*, Johannes Birgmeier*, Harendra Guturu, Cole Deisseroth, Aaron M. Wenger, Jonathan A. Bernstein, and Gill Bejerano
Genetics in Medicine, 2018

Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
Johannes Birgmeier*, Edward D Esplin*, Karthik A Jagadeesh*, Harendra Guturu, Aaron M Wenger, Hassan Chaib, Julia A Buckingham, Gill Bejerano, Jonathan A Bernstein
American Journal of Medical Genetics Part A, 2018

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease
Heidi I Chen*, Karthik A Jagadeesh*, Johannes Birgmeier, Aaron M Wenger, Harendra Guturu, Susan Schelley, Jonathan A Bernstein, Gill Bejerano
European Journal of Human Genetics, 2018

Deriving genomic diagnoses without revealing patient genomes
Karthik A. Jagadeesh*, David J. Wu*, Johannes Birgmeier, Dan Boneh, and Gill Bejerano
Science, 2017 (in the press: Scientific American, Wired)

Counterexample to induction-guided abstraction-refinement (CTIGAR)
Johannes Birgmeier, Aaron R. Bradley, Georg Weissenbacher
International Conference on Computer Aided Verification, 2014

* equal contribution