GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Open accessAbstract
Here, we describe an overview and update on GeneMatcher (http://www.genematcher.org), a freely accessible Web-based tool developed as part of the Baylor-Hopkins Center for Mendelian Genomics. We created GeneMatcher with the goal of identifying additional individuals with rare phenotypes who had variants in the same candidate disease gene. We also wanted to facilitate connections to basic scientists working on orthologous genes in model systems with the goal of connecting their work to human Mendelian phenotypes. Meeting these goals will enhance the identification of novel Mendelian genes. Launched in September, 2013, GeneMatcher now has 2,178 candidate genes from 486 submitters spread across 38 countries entered in the database (June 1, 2015). GeneMatcher is also part of the Matchmaker Exchange (http://matchmakerexchange.org/) with an Application Programing Interface enabling submitters to query other databases of genetic variants and phenotypes without having to create accounts and data entries in multiple systems.
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Two additional diagnoses were made by submitting novel gene candidates to GeneMatcher and matching them to multiple other cases in real time, which established novel gene-disease associations and enabled diagnostic reporting.
“Two further molecular diagnoses were made by submitting novel gene candidates to GeneMatcher 18 (an international data sharing platform) and matching to multiple other cases in real time, enabling establishment of novel genedisease associations and diagnostic reporting.19”
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- Authors
- Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A.
- Affiliations
- Johns Hopkins University (US)
- FS Consulting; Salem Massachusetts
- Corresponding author
- Sobreira, Nara
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2015-08-13
- Volume
- 36
- Issue
- 10
- Pages
- 928-930
- ISSN
- 1059-7794 (ISSN-L)
- PMC
- PMC4833888
- OpenAlex
- W1808711893
- Cited by
- 1,529
- References
- 5
- Citations by year
- 2026: 121 · 2025: 151 · 2024: 173 · 2023: 159 · 2022: 205 · 2021: 202 · 2020: 175 · 2019: 156 · 2018: 85 · 2017: 62 · 2016: 31 · 2015: 8 · 2014: 1
- FWCI
- 42.62
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NHGRI (1U54HG006542)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Keywords
- Mendelian genetics, rare phenotypes, candidate disease genes, orthologs, model organisms, online databases, gene discovery
- MeSH terms
- Humans, Phenotype, Software, User-Computer Interface, Genetic Variation, Computational Biology, Genetic Predisposition to Disease, Databases, Genetic, Information Dissemination, Rare Diseases, Web Browser
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