{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001298421,0.0006811458,0.001134825,0.003608455,0.0002702539,0.001102283,0.0007208553,0.00163897,0.001753244],"category_scores_gemma":[0.002148876,0.0002620741,0.0004734572,0.002869301,0.001525895,0.001234401,0.0006620589,0.002274735,0.00166257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008676436,"about_ca_system_score_gemma":0.001290926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002243944,"about_ca_topic_score_gemma":0.002720917,"domain_scores_codex":[0.9995083,0.0001482523,0.00006648261,0.00006207934,0.0001841254,0.00003087656],"domain_scores_gemma":[0.9985577,0.0009781111,0.0001215172,0.0000367827,0.0002415008,0.00006434322],"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":[0.00004472314,0.00005408915,0.001235875,0.007227299,0.00009686692,0.001348251,0.0001586002,0.000230723,0.00112357,0.005123041,0.04067545,0.9426815],"study_design_scores_gemma":[0.00001698588,0.00005024184,0.004649269,0.008535027,0.0001085513,0.01776858,0.0002817145,0.00006944392,0.0005307317,0.00702878,0.9609272,0.00003346551],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00009091439,0.9980558,0.0001140853,0.0006173382,0.0001957383,0.00000205956,0.000007357386,0.000005352015,0.0009114249],"genre_scores_gemma":[0.0007359333,0.9981779,0.0002422716,0.0002831248,0.0002283379,0.000002588175,0.00001393682,0.000001458448,0.0003143481],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003608455,"threshold_uncertainty_score":0.006866813,"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."}}