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A literature review at genome scale: improving clinical variant assessment

PURPOSE: Over 150,000 variants have been reported to cause Mendelian disease in the medical literature. It is still difficult to leverage this knowledge base in clinical practice as many reports lack strong statistical evidence or may include false associations. Clinical laboratories assess whether...

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Udgivet i:Genet Med
Main Authors: Cassa, Christopher A., Jordan, Daniel M., Adzhubei, Ivan, Sunyaev, Shamil
Format: Artigo
Sprog:Inglês
Udgivet: 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6070443/
https://ncbi.nlm.nih.gov/pubmed/29388949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.230
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