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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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2015
Matèries:
Special Issue Articles
Accés en línia: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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