PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Orion J. Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley, Heather Trang, Andriy Misyura, Tal Friedman, Chandree Beaulieu, William P. Bone, Amanda E. Links, Nicole L. Washington, Melissa A. Haendel, Peter N. Robinson, Cornelius F. Boerkoel, David Adams, William A. Gahl, Kym M. Boycott, Michael Brudno

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case records by clinicians and rare disease scientists, we have developed the PhenomeCentral portal (https://phenomecentral.org). Each record includes a phenotypic description and relevant genetic information (exome or candidate genes). PhenomeCentral identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users, enabling both hypothesis-free and hypothesis-driven matchmaking. Users can then contact other submitters to follow up on promising matches. PhenomeCentral incorporates data for over 1,000 patients with rare genetic diseases, contributed by the FORGE and Care4Rare Canada projects, the US NIH Undiagnosed Diseases Program, the EU Neuromics and ANDDIrare projects, as well as numerous independent clinicians and scientists. Though the majority of these records have associated exome data, most lack a molecular diagnosis. PhenomeCentral has already been used to identify causative mutations for several patients, and its ability to find matching patients and diagnose these diseases will grow with each additional patient that is entered.

Original languageEnglish (US)
Pages (from-to)931-940
Number of pages10
JournalHuman mutation
Volume36
Issue number10
DOIs
StatePublished - Oct 1 2015

    Fingerprint

Keywords

  • Deep phenotyping
  • HPO
  • Matchmaker Exchange
  • Patient matchmaking
  • Semantic similarity

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Buske, O. J., Girdea, M., Dumitriu, S., Gallinger, B., Hartley, T., Trang, H., Misyura, A., Friedman, T., Beaulieu, C., Bone, W. P., Links, A. E., Washington, N. L., Haendel, M. A., Robinson, P. N., Boerkoel, C. F., Adams, D., Gahl, W. A., Boycott, K. M., & Brudno, M. (2015). PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human mutation, 36(10), 931-940. https://doi.org/10.1002/humu.22851