AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literatur...
AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
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Author / Creator
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 , Re, Christoper M , The Manton Center , Beggs, Alan H , Bernstein, Jonathan A and Bejerano, Gill
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Language
English
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Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Scope and Contents
Contents
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,...
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AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
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TN_cdi_proquest_journals_2314429528
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2314429528
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E-ISSN
2692-8205
DOI
10.1101/839878
How to access this item
https://www.proquest.com/docview/2314429528?pq-origsite=primo&accountid=13902
