{"id":"W4281550919","doi":"10.1155/2022/9393042","title":"Pitfalls in Genetic Testing for Consanguineous Pediatric Populations","year":2022,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Consanguinity; Exome sequencing; Genetic testing; Medical genetics; Global developmental delay; Medicine; Microcephaly; Genetics; Exome; Population; Pediatrics; Biology; Gene; Mutation; Phenotype","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":[0.0001939869,0.000126268,0.0001285151,0.0001262742,0.0001323487,0.00001509761,0.00006589204,0.00005929308,0.00001390763],"category_scores_gemma":[0.0002663664,0.0001518205,0.0000642047,0.00021297,0.00002216583,8.72148e-7,0.0001621558,0.00008056207,3.151374e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004245328,"about_ca_system_score_gemma":0.0002209008,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005977182,"about_ca_topic_score_gemma":0.0001816861,"domain_scores_codex":[0.998762,0.00004360084,0.0004591039,0.0003827433,0.00009377438,0.0002587693],"domain_scores_gemma":[0.9993292,0.00002677135,0.0001528261,0.0003542479,0.0000668233,0.00007014351],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003469732,0.0003351604,0.78907,0.00007016101,0.00001503783,0.05570604,0.000118112,0.1375777,0.01204622,0.0000238,0.001145847,0.003857153],"study_design_scores_gemma":[0.004809747,0.003039708,0.5141029,0.00003505774,0.0004205873,0.3879188,0.002075755,0.01719061,0.004302745,0.006866828,0.0558331,0.003404187],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930716,0.005675205,0.0001875573,0.00001514901,0.0003492782,0.0004728211,0.00006975148,0.000007391303,0.0001512235],"genre_scores_gemma":[0.992264,0.00005463208,0.006910079,0.00008912342,0.0001959,0.0002020144,0.0001388995,0.00003183814,0.0001135598],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3322127,"threshold_uncertainty_score":0.6191062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02946390186300895,"score_gpt":0.2810506771539341,"score_spread":0.2515867752909251,"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."}}