Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery-Reference-Cited by-同舟云学术

Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

Published:2015-09-08 Issue:10 Volume:36 Page:979-984
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Mungall Christopher J.¹,Washington Nicole L.¹,Nguyen-Xuan Jeremy¹,Condit Christopher²,Smedley Damian³,Köhler Sebastian⁴,Groza Tudor⁵,Shefchek Kent⁶,Hochheiser Harry⁷,Robinson Peter N.⁴,Lewis Suzanna E.¹,Haendel Melissa A.⁶

Affiliation:

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

2. San Diego Supercomputing Center; UC San Diego; La Jolla California

3. Wellcome Trust Sanger Institute; Mouse Informatics group; Hinxton UK

4. Charité - Universitätsmedizin Berlin; Institute for Medical and Human Genetics; Berlin Germany

5. Kinghorn Centre for Clinical Genomics; Garvan Institute of Medical Research; Sydney Australia

6. Department of Biomedical Informatics and Clinical Epidemiology; Oregon Health and Science University; Portland Oregon

7. Department of Biomedical Informatics; University of Pittsburgh; Pittsburgh Pennsylvania

Funder

NIH

Director, Office of Science, Office of Basic Energy Sciences, of the U.S. Department of Energy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

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2. The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse;Blake;Nucleic Acids Res,2014

3. Rare-disease genetics in the era of next-generation sequencing: discovery to translation;Boycott;Nat Rev Genet,2013

4. The matchmaker exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles;Buske;Hum Mutat,2015

5. Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon;Haendel;J Biomed Semantics,2014

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