{"id":"W2142360508","doi":"10.1136/archdischild-2013-304484","title":"Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features","year":2013,"lang":"en","type":"article","venue":"Archives of Disease in Childhood","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre","funders":"Healing Foundation","keywords":"Medicine; Velopharyngeal insufficiency; In situ hybridisation; Comparative genomic hybridization; Chromosome; Abnormality; Clinical significance; Speech delay; Population; Pediatrics; Medical genetics; Pathology; Genetics; Surgery; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005109186,0.0001147737,0.0001355683,0.0001060228,0.00004175314,0.00001013833,0.0001523265,0.0000440499,0.0001484884],"category_scores_gemma":[0.0001505114,0.00009864105,0.00006708403,0.000113959,0.0002011901,0.000007351387,0.00006612582,0.00009372836,0.000002087529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000047764,"about_ca_system_score_gemma":0.0001710306,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001528315,"about_ca_topic_score_gemma":0.00007991378,"domain_scores_codex":[0.9991221,0.000119759,0.0001994306,0.0002074089,0.0001455852,0.0002056578],"domain_scores_gemma":[0.9994585,0.0001152305,0.00009329998,0.0001757036,0.00005368527,0.0001035954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002625523,0.00734571,0.7404714,0.0005069556,0.001002195,0.0000367036,0.002513302,0.00711571,0.1971286,0.0005640463,0.002119014,0.03857087],"study_design_scores_gemma":[0.0006927192,0.0004069028,0.9860021,0.00008917166,0.0000121945,0.000001275162,0.00004640847,0.00007773897,0.0114195,0.001106558,0.00003169484,0.0001137078],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983057,0.0002035196,0.00003686011,0.00006348668,0.00002004181,0.0002224784,0.0006830224,0.000005744359,0.0004591355],"genre_scores_gemma":[0.9987652,0.0001340291,0.000149623,0.00003461258,0.0000522866,0.00005000238,0.0007175276,0.00001347648,0.00008325589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2455307,"threshold_uncertainty_score":0.4022465,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003861072792602531,"score_gpt":0.2046765884194594,"score_spread":0.2008155156268569,"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."}}