{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004311698,0.0001155717,0.000158129,0.00003971898,0.00002167808,0.00001293528,0.00008737163,0.00004312861,0.00001856626],"category_scores_gemma":[0.0006172542,0.0001034767,0.0000540967,0.000114559,0.00007642587,0.000001459507,0.00005765765,0.00003400777,0.000002113335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001292539,"about_ca_system_score_gemma":0.0003674511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008313914,"about_ca_topic_score_gemma":0.0002163778,"domain_scores_codex":[0.9992666,0.0000848277,0.0001649223,0.0002619958,0.00005578686,0.0001659284],"domain_scores_gemma":[0.9994455,0.0001194298,0.00005309346,0.0002464244,0.00006553272,0.00007001407],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002251836,0.0002050739,0.03816862,0.0001394663,0.0001063797,0.002153744,0.0001673555,0.005533366,0.9491872,0.0002843731,0.001294726,0.002534481],"study_design_scores_gemma":[0.004477895,0.0009996427,0.3471653,0.0002188082,0.0001652348,0.0003876224,0.001738073,0.0001462963,0.6333792,0.0006741717,0.009753308,0.0008944228],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949221,0.004458913,0.00004255946,0.0002295686,0.00005407506,0.000111203,0.0001187685,0.000005523417,0.0000572776],"genre_scores_gemma":[0.9983699,0.000428529,0.000220553,0.0005384833,0.00005122914,0.00001793465,0.0001770742,0.00001858324,0.0001776897],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.315808,"threshold_uncertainty_score":0.4219658,"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."}}