GeneMatcher is a freely accessible web site developed with support from the Baylor-Hopkins Center for Mende-lian Genomics as part of the Centers for Mendelian Genomics network.
GeneMatcher is designed to enable connections between patients, their families, clinicians and researchers from around the world who share an interest in the same gene or genes. The principal goal for making GeneMatcher available is to help solve 'unsolved' exomes. This may be done with cases from research or clinical sources.
The site allows individuals to post a gene (or genes) of interest and will connect individuals who post the same gene. Users create an account and submit gene(s) of interest (by gene symbol or base pair position). Users have the option, though are not required, to provide a variant (or variants) (by base pair position), diagnosis based upon OMIM® number, as well as to submit clinical features of the patient/family and add that to the matching criteria. The match is done automatically. When a match occurs, the submitters will automatically receive email notification. Follow-up is at the discretion of the submitters. It is also possible to query other Matchmakers (see MatchmakerExchange.org) to see if they contain matches. Upon entry to the site, the submitter will be prompted to select the database(s) and matching criteria.
If a match is not identified at the time of submission, the genes of interest will continue to be queried by new entries. Genes or gene lists may also be left on the site even after a match has been identified.
GeneMatcher adheres to strict safety and privacy protocols. Users must register to use the site. The database is not searchable and does not collect identifiable data. Submitters have access to their own data and full control over the contents including the options to edit or delete it at any time. Users may not access the full database, and may only search or view the data linked to their own account.
If you are publishing a paper that resulted at least in part from a successful GeneMatcher match, please state this in the paper and cite GeneMatcher:
Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene. Hum Mutat. 2015 Jul 29. doi: 10.1002/humu.22844. PubMed: 26220891.
Another paper that discusses GeneMatcher is:
Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769. PubMed: 25684268.
See the Frequently Asked Questions (FAQs) for Additional information.
Use of GeneMatcher is governed by the End User License Agreement (EULA).