GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

Abstract

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.

Keywords: Matchmaker Exchange; Mendelian disease; next-generation sequencing; variant analysis; whole exome sequencing; whole genome sequencing.

Figure 1

A: A user can post a gene(s) by gene symbol, Entrez- or Ensembl-Gene ID or a variant based on base pair position. Entries can be deleted at will. B and C: A user can search among their own entries based on MIM number, clinical features (B), gene name or genomic location (C). D: A user also has the option to provide a diagnosis based upon OMIM^® number and match on that. E: Basic scientists working on orthologous genes in model systems can indicate the organism they are studying. F: GeneMatcher can also accept phenotypic features and, in the near future, users will also be able to match on features.

Figure 2

The growth in the number of genes submitted to GeneMatcher and the number of matches.