Solving Medical Mysteries
Through Team Science

Facts and Figures

Applications received: 1978
Applications under review: 337
Participants accepted: 848

Participants evaluated: 556
Participants diagnosed: 158
Participants with exome or genome sequencing complete: 521
Participants with metabolomic analyses complete: 92
Participants with variants studied by the Model Organisms Screening Center: 91
Participants with samples in the Central Biorepository: 392

Data Sharing
Manuscripts published: 19
Participants with data submitted to dbGaP: 150
Participants with data submitted to PhenomeCentral: 248
Participants with variants submitted to ClinVar: 37

Last updated: December 1, 2017
Note: only proband data is reported here