{"id":"W4387337707","doi":"10.1016/j.cjca.2023.06.315","title":"IDENTIFICATION OF PAM AS NOVEL MONOGENIC DIABETES GENE","year":2023,"lang":"en","type":"article","venue":"Canadian Journal of Cardiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Genome-wide association study; Medicine; Identification (biology); Genetic association; Exome; Computational biology; Gene; Genetics; Exome sequencing; Type 2 diabetes; Diabetes mellitus; Bioinformatics; Phenotype; Single-nucleotide polymorphism; Biology; Genotype; Endocrinology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"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":[0.000127489,0.0004497602,0.0003581103,0.001437177,0.0006473356,0.0005078585,0.0004581264,0.0008135507,0.005270663],"category_scores_gemma":[0.0008501241,0.0001836052,0.0004970093,0.00100553,0.0002948441,0.0002110295,0.0003587072,0.0007561464,0.0005494043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000190322,"about_ca_system_score_gemma":0.0002948548,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001469327,"about_ca_topic_score_gemma":0.0009891504,"domain_scores_codex":[0.9997997,0.00002839438,0.00001758443,0.00006438405,0.00004306396,0.00004686748],"domain_scores_gemma":[0.9996582,0.00008893594,0.0000884134,0.00003220017,0.00003581933,0.00009632036],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003315407,0.0006608319,0.5872202,0.0002838148,0.000318016,0.1706738,0.0008876119,0.000461006,0.1801213,0.005361262,0.003252756,0.0474439],"study_design_scores_gemma":[0.0002183244,0.0005507907,0.7468497,0.0001047669,0.0004529122,0.2142071,0.0004923208,0.00344228,0.0191572,0.003761383,0.01071823,0.00004500302],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945913,0.0006749771,0.001436747,0.000577996,0.000109223,0.00001974433,0.0003680944,0.00004984148,0.002172083],"genre_scores_gemma":[0.9964082,0.0003173147,0.001182245,0.0001622839,0.0001082271,0.00001296576,0.0003235164,0.000008295369,0.001476961],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005270663,"threshold_uncertainty_score":0.01763213,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01339313240302509,"score_gpt":0.243697083932848,"score_spread":0.2303039515298229,"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."}}