DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an internation...

Descripción completa

Detalles Bibliográficos
Autores principales: Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
VI. Genomic variation, diseases and drugs
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078/
https://www.ncbi.nlm.nih.gov/pubmed/24150940
http://dx.doi.org/10.1093/nar/gkt937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078/
https://www.ncbi.nlm.nih.gov/pubmed/24150940
http://dx.doi.org/10.1093/nar/gkt937

Ejemplares similares