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

The Matchmaker Exchange API allows searching a patient's genotypic or phenotypic profiles across clinical sites, for the purposes of cohort discovery and variant-disease causal validation. This API can be used not only to search for matching patients, but also to match against public disease an...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Mungall, Christopher J., Washington, Nicole L., Nguyen-Xuan, Jeremy, Condit, Christopher, Smedley, Damian, Köhler, Sebastian, Groza, Tudor, Shefchek, Kent, Hochheiser, Harry, Robinson, Peter N., Lewis, Suzanna E., Haendel, Melissa A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473253/
https://ncbi.nlm.nih.gov/pubmed/26269093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22857
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