{"id":"W2061076810","doi":"10.1136/jmedgenet-2013-101715","title":"A novel mutation in <i>KIAA0196</i>: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort","year":2013,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Winnipeg Regional Health Authority","funders":"Canada Research Chairs; Manitoba Medical Service Foundation","keywords":"Sanger sequencing; Genetics; Biology; Disease gene identification; Mutation; Gene; Candidate gene; SNP array; Exon; Cohort; Genotype; Single-nucleotide polymorphism; Exome sequencing; Medicine; Internal medicine","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":[0.00101871,0.0001102094,0.0004015963,0.0005944419,0.00001643896,0.00001053561,0.0001934938,0.0002270715,0.0001433147],"category_scores_gemma":[0.00206302,0.00008959312,0.00008585046,0.0008761411,0.00008867003,0.00008232598,0.00003061364,0.000565181,0.000009615718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004723049,"about_ca_system_score_gemma":0.0002342991,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002162943,"about_ca_topic_score_gemma":0.0009140213,"domain_scores_codex":[0.9972714,0.0000807444,0.001328348,0.0001507766,0.0009828703,0.0001859237],"domain_scores_gemma":[0.9988349,0.0003160441,0.0003668714,0.0001185674,0.0001693278,0.0001942708],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002281299,0.003569106,0.9699047,0.0004320364,0.00006471103,0.0007322466,0.0009552196,0.00196276,0.01632133,0.0001279771,0.0003201891,0.005381652],"study_design_scores_gemma":[0.003639532,0.0004532347,0.9862947,0.0001752419,0.00003733949,0.0003030091,0.0001461661,0.0080577,0.0002810704,0.0004106104,0.0001184478,0.00008287803],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913473,0.001099153,0.0009283596,0.005964154,0.000145098,0.0004059299,0.000003718425,0.000003918116,0.0001023398],"genre_scores_gemma":[0.996397,0.002040674,0.001043303,0.0003992451,0.00005962891,0.00002007572,0.00000823482,0.0000101739,0.00002161643],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01639012,"threshold_uncertainty_score":0.3653501,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01825663173832133,"score_gpt":0.2669597888053689,"score_spread":0.2487031570670475,"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."}}