Accelerating biomedical discovery in the 21st century by enabling access and joint analysis of diverse data types (from genetic variants, to imaging studies to clinical notes) at an unprecedented pace. The infrastructure must not only enable acceleration of prior analyses but do so for a much wider range of researchers from disciplines that previously did not have the means to engage in this research. More important than acceleration is to ensure that the wishes of the patient, as to who may access their data and when, remains the primary informant of all infrastructure design. It’s their data.
Faculty
News
Faculty join NIH HuBMAP (September 26, 2018)
UDN Scales Up (September 24, 2018)
A Google Maps for Phelan-McDermid? (April 25, 2018)
Publications
HiGlass: web-based visual exploration and analysis of genome interaction maps (Genome Biology, 2018)
Rcupcake: an R package for querying and analyzing biomedical data through the BD2K PIC-SURE RESTful API (Bioinformatics, 2018)
Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports (American Journal of Medical Genetics, 2017)
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease (The American Journal of Human Genetics, 2017)