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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Special Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832335/
https://www.ncbi.nlm.nih.gov/pubmed/26220709
http://dx.doi.org/10.1002/humu.22842

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832335/
https://www.ncbi.nlm.nih.gov/pubmed/26220709
http://dx.doi.org/10.1002/humu.22842

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