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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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書目詳細資料
發表在:Database (Oxford)
Main Authors: Famiglietti, M L, Estreicher, A, Breuza, L, Poux, S, Redaschi, N, Xenarios, I, Bridge, A
格式: Artigo
語言:Inglês
出版: Oxford University Press 2019
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在線閱讀: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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