{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008516897,0.0004740014,0.0004730084,0.0009407431,0.0005806059,0.001044268,0.001074323,0.001294744,0.00383472],"category_scores_gemma":[0.005700337,0.0002228479,0.000179713,0.0005586766,0.0003475529,0.0003932913,0.0003285523,0.0009444531,0.0011193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003839266,"about_ca_system_score_gemma":0.0002430546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007751479,"about_ca_topic_score_gemma":0.001303946,"domain_scores_codex":[0.9994343,0.0001035857,0.00007968237,0.0001283602,0.0002058278,0.00004811384],"domain_scores_gemma":[0.9958054,0.002224257,0.000425659,0.0001640246,0.001019606,0.000361017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.004147865,0.00035234,0.1425829,0.001777536,0.0004484967,0.04802682,0.001355664,0.002084806,0.2136946,0.001024919,0.4027798,0.1817242],"study_design_scores_gemma":[0.0003916385,0.001310941,0.1767782,0.0005129295,0.001265165,0.0798307,0.001878634,0.04075355,0.1072671,0.003001348,0.5867459,0.0002638521],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7687554,0.02302603,0.03350068,0.09172507,0.05847959,0.0003820916,0.01050189,0.003343391,0.01028594],"genre_scores_gemma":[0.8526257,0.006064395,0.0401318,0.03533964,0.03778464,0.0001700419,0.008129846,0.0009339639,0.01882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00383472,"threshold_uncertainty_score":0.01282841,"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."}}