{"id":"W2170864748","doi":"10.1136/archdischild-2013-304063","title":"Genetics and the investigation of developmental delay/intellectual disability","year":2013,"lang":"en","type":"review","venue":"Archives of Disease in Childhood","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":108,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre","funders":"","keywords":"Medicine; Intellectual disability; Quarter (Canadian coin); Global developmental delay; Genetic diagnosis; Genetic testing; Pediatrics; Diagnostic test; Family medicine; Psychiatry; Genetics","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008167951,0.0002257459,0.0005083343,0.00004709824,0.00003384144,0.000009734817,0.0002746193,0.00007021776,0.000008044861],"category_scores_gemma":[0.0002210956,0.0001506928,0.0002756658,0.00006502224,0.0009405595,0.00000189828,0.0002945824,0.00009128642,0.000001192758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005999684,"about_ca_system_score_gemma":0.0003793933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001824962,"about_ca_topic_score_gemma":0.0000100266,"domain_scores_codex":[0.9987604,0.0002017795,0.0004980907,0.0003115986,0.00009059039,0.0001375258],"domain_scores_gemma":[0.9991308,0.0002207756,0.0002116659,0.0002985544,0.00001521885,0.0001230283],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002512485,0.0004940957,0.007948499,0.008495535,0.0005827763,0.00000309505,0.001546315,0.0000192925,0.00008090992,0.0002231394,0.0001133245,0.9802418],"study_design_scores_gemma":[0.02026728,0.00177737,0.3902045,0.03815872,0.009096509,0.0002334285,0.002108232,0.0004772129,0.002510877,0.04371631,0.4843162,0.007133358],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2285269,0.7705404,0.000006666587,0.00001227319,0.00002097562,0.0006259223,0.0001912327,0.000001465211,0.00007416681],"genre_scores_gemma":[0.1798358,0.8193493,0.000305423,0.00001536226,0.00003925048,0.00006283612,0.0003640245,0.00001914005,0.000008911999],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9731084,"threshold_uncertainty_score":0.6145073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01465788239481173,"score_gpt":0.2498868908256236,"score_spread":0.2352290084308119,"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."}}