Annual Review of Genomics and Human Genetics: DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data

DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. The platform sits at the...

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Detalles Bibliográficos
Autores principales: Foreman, Julia, Perrett, Daniel, Mazaika, Erica, Hunt, Sarah E., Ware, James S., Firth, Helen V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615097/
https://www.ncbi.nlm.nih.gov/pubmed/37285546
http://dx.doi.org/10.1146/annurev-genom-102822-100509

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615097/
https://www.ncbi.nlm.nih.gov/pubmed/37285546
http://dx.doi.org/10.1146/annurev-genom-102822-100509

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