The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles-Reference-Cited by-同舟云学术

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

Published:2015-09-17 Issue:10 Volume:36 Page:922-927
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Buske Orion J.¹²³,Schiettecatte François⁴,Hutton Benjamin⁵,Dumitriu Sergiu³,Misyura Andriy³,Huang Lijia⁶,Hartley Taila⁶,Girdea Marta²³,Sobreira Nara⁷,Mungall Chris⁸,Brudno Michael¹²³

Affiliation:

1. Genetics and Genome Biology Program; The Hospital for Sick Children; Toronto Canada

2. Department of Computer Science; University of Toronto; Toronto Canada

3. Centre for Computational Medicine; The Hospital for Sick Children; Toronto Canada

4. FS Consulting LLC; Salem Massachusetts

5. Wellcome Trust Sanger Institute; Cambridge UK

6. Children's Hospital of Eastern Ontario Research Institute; Ottawa Ontario Canada

7. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

8. Genomics Division; Lawrence Berkeley National Laboratory; Berkeley California

Funder

National Human Genome Research Institute, NIH

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am J Hum Genet,2014

2. PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases;Buske;Hum Mutat,2015

3. Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

4. The Sequence Ontology: a tool for the unification of genome annotations;Eilbeck;Genome Biol,2005

5. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders;Hamosh;Nucleic Acids Res,2005

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