loading page

PhenomeCentral: 7 years of rare disease matchmaking
  • +9
  • Matthew Osmond,
  • Taila Hartley,
  • Brittney Johnstone,
  • Sasha Andijc,
  • Marta Girdea,
  • Meredith Gillespie,
  • Orion Buske,
  • Sergiu Dumitriu,
  • Veronika Koltunova,
  • Arun Ramani,
  • Kym Boycott,
  • Michael Brudno
Matthew Osmond
Children's Hospital of Eastern Ontario Research Institute

Corresponding Author:[email protected]

Author Profile
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Author Profile
Brittney Johnstone
Sunnybrook Health Sciences Centre
Author Profile
Sasha Andijc
University Health Network
Author Profile
Marta Girdea
University Health Network
Author Profile
Meredith Gillespie
Children's Hospital of Eastern Ontario Research Institute
Author Profile
Orion Buske
Author Profile
Sergiu Dumitriu
University Health Network
Author Profile
Veronika Koltunova
University Health Network
Author Profile
Arun Ramani
University of Toronto Department of Computer Science
Author Profile
Kym Boycott
Children’s Hospital of Eastern Ontario Research Institute
Author Profile
Michael Brudno
University of Toronto
Author Profile


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 in order 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 dataset has consistently grown. There are currently 1,615 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.
06 Oct 2021Submitted to Human Mutation
07 Oct 2021Submission Checks Completed
07 Oct 2021Assigned to Editor
10 Oct 2021Reviewer(s) Assigned
07 Nov 2021Review(s) Completed, Editorial Evaluation Pending
12 Nov 2021Editorial Decision: Revise Minor
31 Jan 20221st Revision Received
07 Feb 2022Submission Checks Completed
07 Feb 2022Assigned to Editor
07 Feb 2022Review(s) Completed, Editorial Evaluation Pending
08 Feb 2022Editorial Decision: Accept
14 Feb 2022Published in Human Mutation. 10.1002/humu.24348