Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

DECIPHER (https://decipher.sanger.ac.uk) is a web‐based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants from well‐phenotyped patients suffering from genetic disorders. DECIPHER aids clinical interpretation of these rare sequence and copy‐number variants...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2015
Assuntos:
Special Issue Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832335/
https://ncbi.nlm.nih.gov/pubmed/26220709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22842
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