{"id":"W3213304273","doi":"10.1093/brain/awab395","title":"High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Stoneygate Trust; National Eye Institute; National Heart, Lung, and Blood Institute; NIHR Cambridge Biomedical Research Centre; Medical Research Council; Canadian Institutes of Health Research; Alzheimer’s Society; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Canada Research Chairs; Department of Health and Social Care; H2020 European Research Council; Türkiye Bilimler Akademisi; Ataxia UK; Leverhulme Trust; National Institute for Health and Care Research; Muscular Dystrophy Canada; Lily Foundation; Evelyn Trust; Canada Foundation for Innovation; National Human Genome Research Institute; Wellcome Trust; Alzheimer's Society; Newton Fund","keywords":"Disease gene identification; Exome sequencing; Consanguinity; Genetics; Genetic counseling; Exome; Disease; Genetic heterogeneity; Genetic testing; Medicine; Biology; Cohort; Compound heterozygosity; Population; Gene; Phenotype; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001338452,0.0003627169,0.0003513115,0.0008812699,0.0003969969,0.0005274103,0.0003143532,0.0004073947,0.001324344],"category_scores_gemma":[0.005347931,0.0001851438,0.0001969158,0.0006382916,0.0002728384,0.0002701003,0.0004562059,0.0003022043,0.0002856778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001919586,"about_ca_system_score_gemma":0.000223042,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003196879,"about_ca_topic_score_gemma":0.004854581,"domain_scores_codex":[0.9984365,0.0004709526,0.0001419254,0.0005104907,0.0003010247,0.0001392067],"domain_scores_gemma":[0.9978998,0.0009560888,0.0004434803,0.0002342937,0.0003065784,0.0001598124],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001583493,0.00001867296,0.9811748,0.00004022023,0.0000809983,0.00463859,0.0004000296,0.000143812,0.004215099,0.00009967238,0.0008443763,0.008185362],"study_design_scores_gemma":[0.00001794971,0.00008101194,0.9720526,0.0000583071,0.0001012667,0.02055535,0.000599936,0.00149384,0.002176502,0.0002941226,0.002547462,0.00002166649],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977393,0.0006903769,0.0005967895,0.00005444661,0.00002151815,0.00001014038,0.0003719363,0.00001310957,0.0005023226],"genre_scores_gemma":[0.9983884,0.0002833512,0.0005101298,0.00006517368,0.00001098467,0.00001177589,0.0006101415,0.000009823374,0.0001101944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003196879,"threshold_uncertainty_score":0.007078469,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005133389082261059,"score_gpt":0.2004058895954148,"score_spread":0.1952725005131538,"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."}}