Johannes Birgmeier, PhD Defense: Machine-Learning based Acceleration of Monogenic Disease Diagnosis

Sep 19, 2019 (Thu) | 2:00 PM -4:00 PM
Clark Auditorium : Stanford, CA

Monogenic diseases are genetic diseases caused by mutations to a single gene. Over 5,000 such diseases together affect up to 1 in 33 newborns. Clinical diagnosis following genome sequencing is done by finding variants in the patient genome that have been shown in previous patients to cause our patientís set of phenotypes. The clinical diagnosis process is very time-consuming because many of these diseases are very rare, because the evidence is scattered in 29 million papers, because free text patient medical records can be 15,000 words long, because no two patients are described with identical phenotypes, and more. In this talk, I will present a combination of machine learning (ML) and natural language processing (NLP) solutions to accelerate the diagnosis of monogenic disorders. I will

Department:  Developmental Biology/DevBio.

Contact: Patti Livingston | 725-6792 |


  • Johannes Birgmeier PhD candidate