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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Genet Med
Main Authors: Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2017
Teme:
Online dostop: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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