Article

AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

2019-11-14

Abstract excerpt

The diagnosis of Mendelian disorders requires labor-intensive literature research. Trained clinicians can spend hours looking for the right publication/s supporting a single gene that best explains a patient’s disease. AMELIE ( A utomatic Me ndelian Li terature E valuation) greatly accelerates this process. AMELIE parses all 29 million PubMed abstracts, downloads and further parses hundreds of thousands of ful...

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Literature Corpus work: d3129470-0421-54c6-9004-dd28d491bd5f
DOI: 10.1101/839878

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