{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005502644,0.0009241244,0.001290056,0.0026879,0.001449381,0.003682908,0.001539564,0.006427911,0.02191206],"category_scores_gemma":[0.05068903,0.0004996217,0.001355102,0.0007153834,0.002718462,0.006038108,0.001271168,0.004902413,0.02794329],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001123905,"about_ca_system_score_gemma":0.001519926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002880371,"about_ca_topic_score_gemma":0.003034211,"domain_scores_codex":[0.9971079,0.0006208075,0.0004152742,0.0004711753,0.001072266,0.0003125296],"domain_scores_gemma":[0.9886597,0.005176761,0.001184683,0.0006986681,0.002799762,0.001480332],"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":[0.0006499436,0.0002662659,0.0530281,0.001026866,0.0002824943,0.02676085,0.001832791,0.0004296799,0.006345259,0.01043347,0.5257226,0.3732216],"study_design_scores_gemma":[0.0001948751,0.0004799767,0.02712323,0.007224855,0.0006186654,0.1801263,0.004973467,0.002181036,0.00963158,0.07356708,0.6934315,0.0004474828],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.05249303,0.06457841,0.04833002,0.6281282,0.04579578,0.0007486197,0.003247932,0.004279011,0.1523991],"genre_scores_gemma":[0.3525989,0.09333208,0.08930127,0.3320325,0.04889017,0.0005735919,0.003378148,0.002196306,0.07769708],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.02191206,"threshold_uncertainty_score":0.07330316,"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."}}