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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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Détails bibliographiques
Publié dans:Genet Med
Auteurs principaux: Cassa, Christopher A., Jordan, Daniel M., Adzhubei, Ivan, Sunyaev, Shamil
Format: Artigo
Langue:Inglês
Publié: 2018
Sujets:
Accès en ligne: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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