PhenomeCentral: 7 years of rare disease matchmaking. Issue 6 (22nd February 2022)

• Record Type: Journal Article
• Authors: Osmond, Matthew; Hartley, Taila; Johnstone, Brittney; Andjic, Sasha; Girdea, Marta; Gillespie, Meredith; Buske, Orion; Dumitriu, Sergiu; Koltunova, Veronika; Ramani, Arun; Boycott, Kym M.; Brudno, Michael
• Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
• Is Part Of: Human mutation. Volume 43:Issue 6(2022)
• Page Start: 674
• Page End: 681
• Publication Date: 2022-02-22
• Subjects: data sharing -- HPO -- Matchmaker Exchange -- patient matchmaking -- PhenomeCentral -- rare disease; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24348
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: A major challenge in validating genetic causes for patients with rare diseases (RDs) is the difficulty in identifying other RD patients with overlapping phenotypes and variants in the same candidate gene. This process, known as matchmaking, requires robust data sharing solutions to be effective. In 2014 we launched PhenomeCentral, a RD data repository capable of collecting computer‐readable genotypic and phenotypic data for the purposes of RD matchmaking. Over the past 7 years PhenomeCentral's features have been expanded and its data set has consistently grown. There are currently 1615 users registered on PhenomeCentral, which have contributed over 12, 000 patient cases. Most of these cases contain detailed phenotypic terms, with a significant portion also providing genomic sequence data or other forms of clinical information. Matchmaking within PhenomeCentral, and with connections to other data repositories in the Matchmaker Exchange, have collectively resulted in over 60, 000 matches, which have facilitated multiple gene discoveries. The collection of deep phenotypic and genotypic data has also positioned PhenomeCentral well to support next generation of matchmaking initiatives that utilize genome sequencing data, ensuring that PhenomeCentral will remain a useful tool in solving undiagnosed RD cases in the years to come.