{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003312823,0.0002270735,0.001114629,0.0006278157,0.00003813467,0.00001851953,0.0001287598,0.00008420424,0.0002265516],"category_scores_gemma":[0.0004869902,0.0001990549,0.0003034476,0.0008427083,0.0001052501,0.0001631742,0.00005216541,0.0002720016,0.0000022213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007832041,"about_ca_system_score_gemma":0.0001047027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002436653,"about_ca_topic_score_gemma":0.00003331975,"domain_scores_codex":[0.9972328,0.0001596109,0.001502469,0.0002159162,0.0004875818,0.0004016395],"domain_scores_gemma":[0.9975134,0.0005592024,0.001031994,0.0003094279,0.0003944224,0.000191555],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004032384,0.0001545407,0.9069994,0.0002890817,0.00029054,0.00002543661,0.0001076967,0.000572892,0.09001108,0.00003276439,0.00008749223,0.001388723],"study_design_scores_gemma":[0.002111492,0.0003480897,0.9387527,0.001589808,0.0003124723,0.000006455891,0.0002694376,0.0007427514,0.05384706,0.001835734,0.00002984265,0.000154234],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914623,0.007590482,0.0001117426,0.0001964401,0.0001821912,0.0002045779,0.000009746656,0.000009546649,0.0002330087],"genre_scores_gemma":[0.9919358,0.0001298229,0.007431076,0.0002216164,0.0001148298,0.00000405923,0.00001400254,0.00003241657,0.0001163129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03616402,"threshold_uncertainty_score":0.8117223,"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."}}