DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

DECIPHER (https://www.deciphergenomics.org) is a free web platform for sharing anonymized phenotype‐linked variant data from rare disease patients. Its dynamic interpretation interfaces contextualize genomic and phenotypic data to enable more informed variant interpretation, incorporating internatio...

Descripción completa

Detalles Bibliográficos
Autores principales: Foreman, Julia, Brent, Simon, Perrett, Daniel, Bevan, Andrew P., Hunt, Sarah E., Cunningham, Fiona, Hurles, Matthew E., Firth, Helen V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303633/
https://www.ncbi.nlm.nih.gov/pubmed/35143074
http://dx.doi.org/10.1002/humu.24340

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303633/
https://www.ncbi.nlm.nih.gov/pubmed/35143074
http://dx.doi.org/10.1002/humu.24340

Ejemplares similares