An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar

Personalized genomic medicine depends on integrated analyses that combine genetic and phenotypic data from individual patients with reference knowledge of the functional and clinical significance of sequence variants. Sources of this reference knowledge include the ClinVar repository of human geneti...

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Detalles Bibliográficos
Autores principales: Famiglietti, M L, Estreicher, A, Breuza, L, Poux, S, Redaschi, N, Xenarios, I, Bridge, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444058/
https://www.ncbi.nlm.nih.gov/pubmed/30937429
http://dx.doi.org/10.1093/database/baz040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444058/
https://www.ncbi.nlm.nih.gov/pubmed/30937429
http://dx.doi.org/10.1093/database/baz040

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