{"id":"W2961051363","doi":"10.1111/cge.13599","title":"Bioinformatic detection of copy number variation in <i>HNF4A</i> causing maturity onset diabetes of the young","year":2019,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Pancreatic function and diabetes","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University; Western University","funders":"Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Proband; Copy-number variation; Maturity onset diabetes of the young; Diabetes mellitus; Genetic testing; Medicine; Sanger sequencing; Genetics; Family history; Exome sequencing; DNA sequencing; Bioinformatics; Type 2 diabetes; Internal medicine; Mutation; Biology; Endocrinology; Gene; Genome","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006557905,0.0001950106,0.0007975399,0.00008454717,0.00002295417,0.00001006454,0.0001129729,0.0008832462,0.00007098021],"category_scores_gemma":[0.001223288,0.0001419034,0.0002915446,0.0002758763,0.0001895966,0.00002984071,0.00007418411,0.001100388,0.00004157658],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005613629,"about_ca_system_score_gemma":0.0001959595,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002837089,"about_ca_topic_score_gemma":0.000005283091,"domain_scores_codex":[0.9975895,0.0002380073,0.001342978,0.0002125164,0.0003916536,0.0002253872],"domain_scores_gemma":[0.9973148,0.001052062,0.0007737063,0.0006431346,0.0001799658,0.00003631588],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007758912,0.0001781964,0.910798,0.002241508,0.0001965021,0.000004521245,0.0001898039,0.00002345904,0.002402802,0.000001632126,0.08299407,0.0008919651],"study_design_scores_gemma":[0.003495096,0.0005522023,0.935986,0.002054858,0.001231372,0.00002650577,0.00004862678,0.006639527,0.02273115,0.0003491576,0.02645858,0.0004269605],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859822,0.0001707353,0.00009349027,0.009578545,0.002223508,0.0006301635,0.00005981958,0.00001709364,0.00124448],"genre_scores_gemma":[0.9081226,0.0001838453,0.00080409,0.08939992,0.0007754426,0.00001143135,0.00008757191,0.00003504971,0.0005800262],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07982138,"threshold_uncertainty_score":0.6812404,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02797998096753827,"score_gpt":0.3046930644311426,"score_spread":0.2767130834636043,"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."}}