{"id":"W4380684881","doi":"10.1093/pnasnexus/pgad196","title":"The Quebec Dental Anomalies Registry: Identifying genes for rare disorders","year":2023,"lang":"en","type":"article","venue":"PNAS Nexus","topic":"dental development and anomalies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; University of Ottawa","funders":"Fonds de Recherche du Québec - Santé; Université de Montréal; Réseau de Recherche en Santé Buccodentaire et Osseuse","keywords":"Dental anomalies; Medicine; Geography; Dentistry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.001520326,0.0003440296,0.0003970144,0.003790464,0.001551065,0.001063207,0.001265656,0.0007162064,0.01280324],"category_scores_gemma":[0.003942181,0.0002182421,0.0003274975,0.004189095,0.0003359578,0.0003599766,0.0007745391,0.0006925876,0.001876301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0110989,"about_ca_system_score_gemma":0.01518412,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9318373,"about_ca_topic_score_gemma":0.9426231,"domain_scores_codex":[0.9988667,0.0001596909,0.00009188397,0.0002244609,0.0004653219,0.0001919294],"domain_scores_gemma":[0.9931592,0.0007278511,0.0008008321,0.00034274,0.003880011,0.001089435],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002412995,0.0000853594,0.752813,0.0002474561,0.00009307317,0.001651276,0.0003433969,0.0005164766,0.0026531,0.001650142,0.1626858,0.07701971],"study_design_scores_gemma":[0.0001017143,0.00005639498,0.89115,0.0002565162,0.00005746025,0.001233305,0.0004123534,0.001933222,0.0009322485,0.0002273217,0.1035956,0.00004378404],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5152317,0.01339219,0.007610811,0.01413825,0.0005238705,0.001769167,0.3836128,0.001093469,0.06262764],"genre_scores_gemma":[0.8442962,0.004594068,0.01181036,0.002886757,0.0001711111,0.0007838609,0.1095509,0.0001762124,0.02573043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06816274,"threshold_uncertainty_score":0.1371283,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01341528578650125,"score_gpt":0.2620296712926509,"score_spread":0.2486143855061497,"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."}}