{"id":"W2259103464","doi":"10.1136/jmedgenet-2015-103223","title":"Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Trillium Health Centre; SickKids Foundation; University of Toronto; Credit Valley Hospital; Mount Sinai Hospital; Hospital for Sick Children","funders":"","keywords":"Biology; Copy-number variation; Short stature; Genetics; Autism; Comparative genomic hybridization; Pseudoautosomal region; Homeobox; Haploinsufficiency; Genetic heterogeneity; Turner syndrome; Gene duplication; Autism spectrum disorder; X chromosome; Phenotype; Gene; Medicine; Endocrinology; Chromosome; Genome; Transcription factor","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":[0.00195343,0.0001072458,0.0001774006,0.00009093599,0.00003174768,0.00002841446,0.0002696569,0.0003454616,0.0000883666],"category_scores_gemma":[0.002441122,0.00009333611,0.00004182089,0.00005789232,0.000130308,0.000004039728,0.0001015394,0.0003263929,0.000003330659],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001660716,"about_ca_system_score_gemma":0.01022669,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.008478434,"about_ca_topic_score_gemma":0.01977782,"domain_scores_codex":[0.9983014,0.0001322341,0.0004759564,0.0001318732,0.000673027,0.0002854404],"domain_scores_gemma":[0.9981493,0.00003218129,0.0001538298,0.0001193115,0.0002337409,0.001311605],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003633623,0.00172984,0.3404453,0.001298515,0.003849904,0.03448685,0.0353528,0.008559182,0.1426622,0.005514285,0.1578313,0.2646362],"study_design_scores_gemma":[0.01115103,0.00251959,0.0200958,0.0005528295,0.0002120194,0.04933627,0.01429375,0.004020743,0.03595367,0.0006050207,0.8601346,0.001124701],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870491,0.005518903,0.0001053553,0.005990025,0.0003932423,0.00005368392,0.00001082652,0.000001368375,0.0008774849],"genre_scores_gemma":[0.9936817,0.001327571,0.002687083,0.001621149,0.0005987113,0.000001102307,0.00000636732,0.00001226475,0.00006408215],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7023032,"threshold_uncertainty_score":0.9981242,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01736634802261175,"score_gpt":0.2776652077456246,"score_spread":0.2602988597230128,"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."}}