Sources of discordance among germ-line variant classifications in ClinVar

PURPOSE: ClinVar is increasingly used as a resource for both genetic variant interpretation and clinical practice. However, controversies exist regarding the consistency of classifications in ClinVar, and questions remain about how best to use these data. Our study systematically examined ClinVar to...

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Publicado en:Genet Med
Autores principales: Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
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Original Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5632819/
https://ncbi.nlm.nih.gov/pubmed/28569743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.60
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