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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Original Research Article
Mynediad Ar-lein: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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