Article

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

2017-08-02

Abstract excerpt

The diagnosis of Mendelian disorders requires labor-intensive literature research. Our software system AMELIE ( A utomatic M endelian L iterature E valuation) greatly automates this process. AMELIE parses hundreds of thousands of full text articles to find an underlying diagnosis to explain a patient’s phenotypes given the patient’s exome. AMELIE prioritizes patient candidate genes for their likelihood of caus...

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Literature Corpus work: 3ce632cb-2bf1-5107-84d1-1c9029f67fdc
DOI: 10.1101/171322

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