Facts and Figures
Applications
Applications received: 7326
Applications under review: 238
Participants accepted: 2949
Evaluations
Participants evaluated: 2597
Participants diagnosed: 780
Participants with exome sequencing completed: 471
Participants with genome sequencing completed: 1926
Participants with RNA sequencing complete: 706
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 492
Data Sharing
Manuscripts published: 273
Variant interpretations submitted to ClinVar: 765
Records shared across Matchmaker Exchange: 2490
Participant pages published on UDN website: 226
Last updated: July 19, 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 The number of applications received does not include applications that were withdrawn.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.