Facts and Figures
Applications
Applications received: 7504
Applications under review: 250
Participants accepted: 3007
Evaluations
Participants evaluated: 2656
Participants diagnosed: 826
Participants with exome sequencing completed: 471
Participants with genome sequencing completed: 1966
Participants with RNA sequencing complete: 715
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 495
Data Sharing
Manuscripts published: 288
Variant interpretations submitted to ClinVar: 765
Records shared across Matchmaker Exchange: 2490
Participant pages published on UDN website: 228
Last updated: October 28, 2024
Please note: family members are not included in these calculations. The number of applications received does not include applications that were withdrawn. Some of the participants diagnosed have not been evaluated. These participants are not included in the number of participants evaluated.