AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.

ABSTRACT: 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 full-text articles in search of information supporting the causality and associated phenotypes of most published genetic variants. AMELIE then prioritizes patient candidate variants for their likelihood of explaining any patient's given set of phenotypes. Diagnosis of singleton patients (without relatives' exomes) is the most time-consuming scenario, and AMELIE ranked the causative gene a

SUBMITTER: Birgmeier J 

PROVIDER: S-EPMC9366928 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature