Facts and Figures
Applications
Applications received: 7152
Applications under review: 238
Participants accepted: 2873
Evaluations
Participants evaluated: 2528
Participants diagnosed: 750
Participants with exome sequencing completed: 470
Participants with genome sequencing completed: 1881
Participants with RNA sequencing complete: 707
Participants with metabolomic analyses completed: 338
Variants evaluated by the Model Organisms Screening Center: 485
Data Sharing
Manuscripts published: 272
Variant interpretations submitted to ClinVar: 721
Records shared across Matchmaker Exchange: 2350
Participant pages published on UDN website: 224
Last updated: April 1, 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 The number of applications received does not include applications that were withdrawn.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.