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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Bibliographic Details
Published in:Genet Med
Main Authors: Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2017
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Original Research Article
Online Access: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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