GeneMatcher: A Matching Tool for Identification of Individuals with Mutations in the Same Gene. A. Hamosh1, N. Sobreira1, F. Schiettecatte2, D. Valle1 1) Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD; 2) FS Consulting, Salem, MA.

   In the last few years, whole exome sequencing (WES) has been the main method used to search for Mendelian disease genes. Identifying the pathogenic mutation from among thousands to millions of genomic variants in typical WES is a challenge. In more than half of the individuals who have a clinical WES the responsible gene and variants cannot be determined. Reasons for this relatively low yield include phenotypic variation; the current, small number of known disease genes (~3300 or only 15% of the total protein coding genes); uncertainty regarding functional consequences of identified variants; and, limited connections between clinicians with clinical WES data and basic scientists. Structured, comprehensive phenotypic data and its sharing as well as improvements in searching for patients or model organisms with mutations in specific candidate genes are important for the success of clinical and research WES analysis. Here we describe GeneMatcher (, a freely accessible web-based tool designed to enable connections between clinicians and researchers from around the world who share an interest in the same gene or genes. No identifiable data are collected. The site allows investigators to post a gene(s) (by gene symbol, base pair position, Entrez- or Ensembl-Gene ID) of interest and will connect investigators who post the same gene. The match is done automatically, submitters will automatically receive email notification and follow-up is at the discretion of the submitters. There is no way to search the database. Submitters have access to their own data and may edit it or delete it at will. There is also an option to provide diagnosis based upon OMIM number and match on that, but this is not required. If a match is not identified at the time of submission the genes of interest will continue to be queried by new entries. An API has been developed that allows the submitter to expand queries within GeneMatcher to other available matching sites, upon request. Presently, the connection is between GeneMatcher and Phenome Central, but other databases will soon be connected to GeneMatcher. In the future, we also plan to enable matching based upon phenotypic features, with or without candidate genes to enhance interpretation of clinical and research exome sequence data. As of 4 June 2014, GeneMatcher has 593 genes submitted by 101 submitters from 18 countries and 14 matches have occurred enabling collaborations between clinicians and researchers.

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