{"id":"W4415354377","doi":"10.2337/dbi25-0040","title":"Toward Data-Driven MODY Panels: Strong Evidence for <i>NEUROD1</i> and <i>PDX1</i> , Limited Support for <i>APPL1</i> and <i>WFS1</i>","year":2025,"lang":"en","type":"article","venue":"Diabetes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill Genome Centre","funders":"Japan Society for the Promotion of Science; Canadian Institutes of Health Research","keywords":"MEDLINE; Pregnancy; Diabetes mellitus; Population","routes":{"ca_aff":true,"ca_fund":true,"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":[0.08182862,0.001348141,0.001356503,0.003203614,0.001123745,0.00586474,0.004086856,0.003386597,0.009924945],"category_scores_gemma":[0.1556726,0.0008520465,0.002013766,0.003511647,0.001809524,0.003585123,0.005105437,0.004182629,0.00327223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001078332,"about_ca_system_score_gemma":0.002936782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002901928,"about_ca_topic_score_gemma":0.007061839,"domain_scores_codex":[0.9499905,0.03022663,0.004085931,0.005964525,0.007989726,0.001742644],"domain_scores_gemma":[0.8238263,0.1179613,0.01345167,0.01908399,0.01897115,0.006705521],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005728727,0.0003037594,0.5550954,0.002582451,0.006207512,0.002480836,0.001245039,0.005091308,0.009868417,0.0165981,0.1225663,0.2722322],"study_design_scores_gemma":[0.002495529,0.001715209,0.3920296,0.00538881,0.004915616,0.01093601,0.001653128,0.02520095,0.02979393,0.1303939,0.3951103,0.0003669522],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.431086,0.03686988,0.1702688,0.1693015,0.008009046,0.001540332,0.04982057,0.00367199,0.129432],"genre_scores_gemma":[0.8188227,0.003202836,0.08103468,0.06564821,0.002708372,0.0007926947,0.02164685,0.000734404,0.005409287],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08182862,"threshold_uncertainty_score":0.4327562,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05550171670149819,"score_gpt":0.3026828552265826,"score_spread":0.2471811385250844,"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."}}