{"id":"W3045929934","doi":"10.1002/humu.24088","title":"Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines","year":2020,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":333,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Cancer Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Bayesian probability; Mendelian inheritance; Medical genetics; Mendelian randomization; Odds; Biology; Genomics; Bayes' theorem; Computer science; Computational biology; Point (geometry); Bioinformatics; Genetics; Artificial intelligence; Machine learning; Genome; Mathematics; Gene; Genetic variants","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04871119145603892,"score_gpt":0.306433194511587,"score_spread":0.2577220030555481,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}