{"id":"W2789584350","doi":"10.1002/mdc3.12600","title":"How Do I Confirm that a New Mutation is Pathogenic?","year":2018,"lang":"en","type":"article","venue":"Movement Disorders Clinical Practice","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Deutsche Forschungsgemeinschaft; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; Wellcome Trust; Joachim Herz Stiftung; International Parkinson and Movement Disorder Society; Biogen","keywords":"Pathogenicity; Exome sequencing; Exome; Missense mutation; Computational biology; DNA sequencing; Personalized medicine; Whole genome sequencing; Genetic testing; Mutation; Biology; Genetics; Computer science; Genome; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004247474,0.0001726181,0.0001533417,0.00002283866,0.0001248875,0.0001431112,0.0002129601,0.000168441,0.000133927],"category_scores_gemma":[0.001176095,0.0001610918,0.0001992808,0.00006565214,0.0001369605,0.00002037504,0.0001366874,0.000115117,0.00006914575],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009084186,"about_ca_system_score_gemma":0.000154302,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000630069,"about_ca_topic_score_gemma":0.00007510077,"domain_scores_codex":[0.9985726,0.000130341,0.0002981481,0.0005293931,0.0002164374,0.000253102],"domain_scores_gemma":[0.9988182,0.000109774,0.0002648781,0.0004660233,0.000142109,0.000199053],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002699926,0.00302418,0.02175152,0.00005170326,0.001360747,0.00006182446,0.0006811141,0.00001161535,0.02810976,0.002118907,0.5493101,0.3908186],"study_design_scores_gemma":[0.00171555,0.001232124,0.006136592,0.00000781597,0.0001404971,0.000003827291,0.001253209,0.00004507379,0.002839944,0.004100497,0.9821998,0.0003250841],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8780869,0.005411961,0.02396481,0.06652358,0.002365808,0.001330476,0.0001304391,0.00006586849,0.02212023],"genre_scores_gemma":[0.9618533,0.00165682,0.002247496,0.03001041,0.0008285064,0.00001633852,0.0001195873,0.00003203947,0.003235484],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4328896,"threshold_uncertainty_score":0.6569132,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02999691028904872,"score_gpt":0.3443871338373888,"score_spread":0.3143902235483401,"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."}}