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Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31.

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.

Author information

1
Department of Computer Science, University of Toronto, Toronto, Canada.
2
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
3
Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
4
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
5
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
6
Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.
7
Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California.
8
Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.
9
Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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.

KEYWORDS:

HPO; Matchmaker Exchange; deep phenotyping; patient matchmaking; semantic similarity

PMID:
26251998
PMCID:
PMC5467641
DOI:
10.1002/humu.22851
[Indexed for MEDLINE]
Free PMC Article

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