Article
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Science translational medicine - 20 May 2020
Birgmeier Johannes, Haeussler Maximilian, Deisseroth Cole A, Steinberg Ethan H, Jagadeesh Karthik A, Ratner Alexander J, Guturu Harendra, Wenger Aaron M, Diekhans Mark E, Stenson Peter D, Cooper David N, Ré Christopher, Beggs Alan H, Bernstein Jonathan A, Bejerano Gill
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 (Automatic Mendelian Literature Evaluation) greatly accelerates this process. AMELIE parses all 29 million PubMed abstracts and downloads and further parses hundreds of thousands of...
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