{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01228469,0.001054154,0.0009528938,0.003723345,0.001850459,0.002084942,0.002079577,0.00266368,0.001810897],"category_scores_gemma":[0.04137764,0.0004694307,0.0005735606,0.001256239,0.003243902,0.002814746,0.002053221,0.004239147,0.001122188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007055677,"about_ca_system_score_gemma":0.001341978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005180629,"about_ca_topic_score_gemma":0.006025837,"domain_scores_codex":[0.9925408,0.003567584,0.0009903593,0.0007004045,0.001687503,0.00051332],"domain_scores_gemma":[0.9783894,0.01548513,0.001160197,0.001147439,0.002682681,0.001135227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003412092,0.0001599176,0.2971231,0.0006174817,0.0001593303,0.3992033,0.008224732,0.001222445,0.005878827,0.01066724,0.03391377,0.2424887],"study_design_scores_gemma":[0.00004258909,0.0002366014,0.04614192,0.002042186,0.0001804191,0.8536177,0.00859795,0.004372548,0.005225856,0.02700493,0.05244004,0.00009726878],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5821007,0.0915473,0.07386734,0.1751532,0.007638845,0.0004100887,0.0007291272,0.002114129,0.06643936],"genre_scores_gemma":[0.9197602,0.01577176,0.04051654,0.01778358,0.003201115,0.0001211239,0.0002438585,0.0002797807,0.002322123],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01228469,"threshold_uncertainty_score":0.06496847,"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."}}