GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
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Discussion
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Implication
Database report demonstrates successful global investigator matching across 2,178 candidate genes, highlighting accelerated discovery of novel rare Mendelian disease mechanisms.
Key Points
- Introduce and update GeneMatcher, a freely accessible web-based platform designed to connect clinicians and scientists investigating identical candidate disease genes and rare Mendelian phenotypes.
- Developed a web-based matching tool through the Baylor-Hopkins Center for Mendelian Genomics to link human patient phenotypes with candidate genes and orthologous model organism genes.
- Integrated an Application Programming Interface (API) with the Matchmaker Exchange to enable federated querying across distinct international genomic and phenotypic databases.
- Enrolled 2,178 candidate disease genes submitted by 486 investigators across 38 countries between September 2013 and June 2015.
- Established cross-platform connectivity via Matchmaker Exchange, facilitating automated query exchanges without requiring multiple individual database submissions.
Cite This Study
Sobreira et al. (2015) studied this question.