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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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Dades bibliogràfiques
Publicat a:Genet Med
Autors principals: Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Accés en línia: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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