Solving Medical Mysteries
Through Team Science

Facts and Figures


Applications received: 4516
Applications under review: 373
Participants accepted: 1703

Participants evaluated: 1401
Participants diagnosed: 417
Participants with exome and/or genome sequencing complete: 1231
Participants with metabolomic analyses complete: 164
Participants with samples in the Central Biorepository: 885
Variants evaluated by the Model Organisms Screening Center: 285

Data Sharing
Manuscripts published: 90
ClinVar submissions: 388
Participants with data submitted to dbGaP: 854
Participants with data submitted to PhenomeCentral: 1306

Last updated: May 26, 2020
Note: only proband data is reported here