Solving Medical Mysteries
Through Team Science

Facts and Figures

Applications received: 2102
Applications under review: 324
Participants accepted: 926

Participants evaluated: 638
Participants diagnosed: 174
Participants with exome or genome sequencing complete: 579
Participants with metabolomic analyses complete: 93
Participants with variants studied by the Model Organisms Screening Center: 91
Participants with samples in the Central Biorepository: 400

Data Sharing
Manuscripts published: 24
Participants with data submitted to dbGaP: 150
Participants with data submitted to PhenomeCentral: 381
Participants with variants submitted to ClinVar: 38

Last updated: February 2, 2018
Note: only proband data is reported here