{"id":"W2900495132","doi":"10.1016/j.pediatrneurol.2018.11.005","title":"Diagnostic Yield of Intellectual Disability Gene Panels","year":2018,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; McGill University","funders":"","keywords":"Genetic testing; Consanguinity; Medicine; Global developmental delay; Intellectual disability; Cohort; Pediatrics; Genetics; Bioinformatics; Gene; Phenotype; Internal medicine; Biology; Psychiatry","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":[0.006979526,0.001152558,0.0007362292,0.004437966,0.0007516121,0.002511921,0.001498415,0.002218812,0.005346861],"category_scores_gemma":[0.05201395,0.0005519197,0.0007620052,0.001151239,0.0008507355,0.001814181,0.00179262,0.001225527,0.001724789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008616019,"about_ca_system_score_gemma":0.0009408977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002510721,"about_ca_topic_score_gemma":0.002046603,"domain_scores_codex":[0.9931612,0.002343189,0.0006081369,0.001074047,0.001722836,0.00109049],"domain_scores_gemma":[0.9719027,0.02068703,0.001210153,0.001545611,0.003233744,0.001420776],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001417709,0.0001224482,0.9103772,0.00009775734,0.0001114605,0.008090215,0.0004523165,0.001280754,0.008840055,0.001149567,0.002715652,0.06534482],"study_design_scores_gemma":[0.0001064933,0.0009495846,0.8607471,0.0003191451,0.001106881,0.06663708,0.002044163,0.0212383,0.02344714,0.009430598,0.01387168,0.0001017949],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9654313,0.006357167,0.004483598,0.004689582,0.000201136,0.00004134588,0.001301734,0.0002497589,0.0172443],"genre_scores_gemma":[0.9966401,0.0008542454,0.001214944,0.0002874844,0.0001556086,0.000008379557,0.0004246004,0.00002529259,0.0003893053],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006979526,"threshold_uncertainty_score":0.03691173,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0119510618162613,"score_gpt":0.2309420215605255,"score_spread":0.2189909597442642,"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."}}