{"id":"W3212252942","doi":"10.4239/wjd.v12.i11.1957","title":"Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population","year":2021,"lang":"en","type":"article","venue":"World Journal of Diabetes","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"HNF1A; Maturity onset diabetes of the young; Population; Medicine; Genetics; Exome sequencing; Diabetes mellitus; Missense mutation; HNF1B; Genetic testing; Gene; Type 2 diabetes; Biology; Internal medicine; Mutation; Endocrinology","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":[0.0001881652,0.0002799813,0.0001937003,0.0006602269,0.000528625,0.0003364707,0.0002019199,0.0003557725,0.004063201],"category_scores_gemma":[0.0005698023,0.0001179632,0.0001981918,0.0007216914,0.0002176909,0.0001996276,0.0002511559,0.0003122307,0.0002700967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001380428,"about_ca_system_score_gemma":0.000213689,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002858167,"about_ca_topic_score_gemma":0.002902846,"domain_scores_codex":[0.9998282,0.00001868316,0.00001593438,0.00006718964,0.00004080925,0.00002908597],"domain_scores_gemma":[0.9998142,0.00005360302,0.00005787782,0.00001411483,0.00002801333,0.00003217579],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002705487,0.00007964296,0.9635146,0.00004673332,0.00008327357,0.004553597,0.0004610245,0.0001462362,0.01271784,0.0001783932,0.0008461253,0.01710189],"study_design_scores_gemma":[0.00001314199,0.0001472893,0.9880704,0.00002625722,0.00005410265,0.008504962,0.0004429488,0.0002054646,0.001200203,0.0001924741,0.001133993,0.000008828631],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982612,0.00029334,0.0002428567,0.0001212878,0.000006653096,0.000008407976,0.0004810242,0.000006628966,0.0005785334],"genre_scores_gemma":[0.9988558,0.0002466427,0.0002342111,0.00006676964,0.000008890645,0.000005861381,0.0003311336,0.000001848905,0.0002487073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004063201,"threshold_uncertainty_score":0.01359272,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01456968896542683,"score_gpt":0.2504137688784518,"score_spread":0.235844079913025,"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."}}