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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Опубликовано в: :Hum Mutat
Главные авторы: Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2015
Предметы:
Special Issue Articles
Online-ссылка: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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