{"id":"W4387877932","doi":"10.37980/im.journal.ggcl.20232267","title":"Variant identification and interpretation","year":2023,"lang":"en","type":"article","venue":"Genetics and Clinical Genomics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier de l'Université Laval","funders":"","keywords":"Humanities; Philosophy","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01926614,0.002172369,0.003279959,0.01524858,0.001858143,0.005174578,0.004936929,0.003385879,0.0382941],"category_scores_gemma":[0.0808336,0.0008565195,0.00349451,0.005439619,0.001843489,0.00194451,0.004453047,0.003512755,0.01659296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001648307,"about_ca_system_score_gemma":0.004773226,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004645139,"about_ca_topic_score_gemma":0.00382526,"domain_scores_codex":[0.9810222,0.004700674,0.00498741,0.004050312,0.004399393,0.0008399705],"domain_scores_gemma":[0.9603308,0.013999,0.003188776,0.009784024,0.01149769,0.00119974],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001855209,0.0001537164,0.05113725,0.00764084,0.001078492,0.008237627,0.002496364,0.001905941,0.01030776,0.0240311,0.3284648,0.562691],"study_design_scores_gemma":[0.0002626212,0.0002277104,0.03075866,0.003901953,0.0008075981,0.01720104,0.001122629,0.005243252,0.01143561,0.04365275,0.8850347,0.0003513822],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.04921361,0.05075563,0.6131755,0.0251196,0.02165026,0.01088568,0.1166606,0.01864869,0.09389058],"genre_scores_gemma":[0.229858,0.02785937,0.5313526,0.01716116,0.007560078,0.008026361,0.1126443,0.008922044,0.056616],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.0382941,"threshold_uncertainty_score":0.1281065,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01691004786283317,"score_gpt":0.311772804643717,"score_spread":0.2948627567808839,"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."}}