GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

By Nara Sobreira, F. Schiettecatte, D. Valle, Ada Hamosh. Human Mutation, 2015

1,396 citations recorded by the source corpus.

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.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/d29f114e2ba378a86e7740fc331f21e301e98e32

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Peter E. M. Taschner
2. Benedict Paten
3. Ada Hamosh
4. Gregory M. Cooper
5. Matthew E. Hurles

In Molecular Biology

1. Michael Brudno
2. Benedict Paten
3. Nicole L. Washington
4. Ada Hamosh
5. J. D. den Dunnen
6. Gregory M. Cooper
7. R. Wanders
8. Matthew E. Hurles

Citations in the corpus

• Genomic diagnosis for children with intellectual disability and/or developmental delay (2016, methodology): “We approached reanalysis in three ways: (1) systematic reanalysis of old data, with the goal of reassessing each dataset every 12 months after initial analysis; (2) mining of variant prompted by new DD/ID genetic publications; and (3) use of GeneMatcher [7] to aid in the interpretation of variants i”
• Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities (2019, background): “Patients 3 and 4 were identified through GeneMatcher based on a shared candidate gene (Sobreira et al., 2015a; Sobreira et al., 2015b).”
• The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery (2015, background): “…special issue of Human Mutation define many of the individual matchmaker services already connected [Buske, et al., 2015a; Chatzimichali et al., 2015; Sobreira et al., 2015b), or intending to connect to the federated network [Lancaster et al., 2015; Kirkpatrick et al., 2015; Lambertson et al.,…”
• Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (2017, methodology): “Left with two candidate genes, we made use of GeneMatcher, a web-based tool for researchers and clinicians working on identical genes.(17) A match was found in four independent families from different centers.”