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Curr Protoc Hum Genet DOI:10.1002/cphg.50

Matchmaker Exchange.

Publication TypeJournal Article
Year of Publication2017
AuthorsSobreira, NLM, Arachchi, H, Buske, OJ, Chong, JX, Hutton, B, Foreman, J, Schiettecatte, F, Groza, T, Jacobsen, JOB, Haendel, MA, Boycott, KM, Hamosh, A, Rehm, HL
Corporate AuthorsMatchmaker Exchange Consortium
JournalCurr Protoc Hum Genet
Volume95
Pages9.31.1-9.31.15
Date Published2017 10 18
ISSN1934-8258
KeywordsAnimals, Computational Biology, Databases, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Genomics, Humans, Rare Diseases, Software, Web Browser
Abstract

In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism; variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of inheritance investigated; and inadequate communication between clinicians and basic scientists with knowledge of particular genes, proteins, or biological systems. To facilitate such communication and improve the search for patients or model organisms with similar phenotypes and variants in specific candidate genes, we have developed the Matchmaker Exchange (MME). MME was created to establish a federated network connecting databases of genomic and phenotypic data using a common application programming interface (API). To date, seven databases can exchange data using the API (GeneMatcher, PhenomeCentral, DECIPHER, MyGene2, matchbox, Australian Genomics Health Alliance Patient Archive, and Monarch Initiative; the latter included for model organism matching). This article guides usage of the MME for rare disease gene discovery. © 2017 by John Wiley & Sons, Inc.

DOI10.1002/cphg.50
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/29044468?dopt=Abstract

Alternate JournalCurr Protoc Hum Genet
PubMed ID29044468
PubMed Central IDPMC6016856
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
U54 HG006493 / HG / NHGRI NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
R24 OD011883 / OD / NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States