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Article

A literature review at genome scale: improving clinical variant assessment.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2018

Cassa Christopher A, Jordan Daniel M, Adzhubei Ivan, Sunyaev Shamil

Abstract excerpt

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 these variants (along with newly observed variants that are adjacent to these published ones) underlie clinical...

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PMID: 29388949
DOI: 10.1038/gim.2017.230
PMCID: PMC6070443

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