Article

A literature review at genome scale: improving clinical variant assessment

2017-09-26

Abstract excerpt

<h4>Introduction: </h4> 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...

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Literature Corpus work: bad7ad4d-367b-5592-a495-ff0757b91e7d
DOI: 10.1101/193870

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