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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Dades bibliogràfiques
Publicat a:Database (Oxford)
Autors principals: Famiglietti, M L, Estreicher, A, Breuza, L, Poux, S, Redaschi, N, Xenarios, I, Bridge, A
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2019
Matèries:
Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6444058/
https://ncbi.nlm.nih.gov/pubmed/30937429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/database/baz040
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