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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Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2015
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Special Issue Articles
Accesso online: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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