{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02347531,0.00084651,0.0008193959,0.009323533,0.002322117,0.002900678,0.00420301,0.003131711,0.009768942],"category_scores_gemma":[0.04356943,0.0008308475,0.0008343899,0.006740401,0.002102161,0.002134595,0.004503849,0.003111031,0.003517216],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01658085,"about_ca_system_score_gemma":0.06560146,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5371354,"about_ca_topic_score_gemma":0.6050747,"domain_scores_codex":[0.9863459,0.003730339,0.002078317,0.001618723,0.004972272,0.001254308],"domain_scores_gemma":[0.9205254,0.008049556,0.001561474,0.003105308,0.06185346,0.004904835],"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":[0.0001402956,0.0001189494,0.06296157,0.001181785,0.00010997,0.002252002,0.001902891,0.001461849,0.00375645,0.01093901,0.3773922,0.5377831],"study_design_scores_gemma":[0.00009704167,0.0001027209,0.1609807,0.005249294,0.0001432607,0.00437535,0.004762758,0.005201995,0.002448915,0.01497365,0.8014522,0.0002120863],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.04808416,0.08632131,0.1364697,0.5519769,0.009885684,0.002085857,0.01438749,0.004213919,0.146575],"genre_scores_gemma":[0.2426985,0.09865482,0.4600348,0.1121368,0.006774343,0.00277297,0.02337671,0.001742699,0.05180833],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.9834192,"threshold_uncertainty_score":0.9311811,"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."}}