{"id":"W1997476796","doi":"10.1186/1471-2164-10-526","title":"Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization","year":2009,"lang":"en","type":"article","venue":"BMC Genomics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Children's & Women's Health Centre of British Columbia; BC Cancer Agency; University of British Columbia; Victoria General Hospital; Université de Montréal; Child and Family Research Institute","funders":"British Columbia Knowledge Development Fund; Genome British Columbia; Genome Canada","keywords":"Comparative genomic hybridization; Biology; Genetics; SNP array; Copy-number variation; Gene chip analysis; SNP; Genomics; Intellectual disability; Genome; DNA microarray; Genotype; Gene; Single-nucleotide polymorphism; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0003827225,0.0002864529,0.0002128021,0.001249007,0.0002462857,0.0003413842,0.0002601269,0.0004806771,0.001383054],"category_scores_gemma":[0.001612911,0.0001651649,0.0001897654,0.0006627461,0.0004008053,0.0001531639,0.0003259028,0.0002808025,0.0002162894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003111223,"about_ca_system_score_gemma":0.0001838663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001395884,"about_ca_topic_score_gemma":0.002146869,"domain_scores_codex":[0.9995424,0.00006599895,0.00004967947,0.0001373216,0.0001337909,0.00007088693],"domain_scores_gemma":[0.9994144,0.0003214696,0.0001257863,0.00004818585,0.00006087534,0.00002926954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003366133,0.00005888855,0.7968056,0.000070642,0.00007625682,0.003668745,0.0004726617,0.0005145902,0.1811594,0.0002033662,0.0005377388,0.01609555],"study_design_scores_gemma":[0.00002725712,0.0002905857,0.9205441,0.00002416817,0.0001283879,0.0142979,0.0003934085,0.002192294,0.05975462,0.0002584555,0.002068094,0.00002074014],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970455,0.0002171057,0.001494402,0.00006295594,0.000006122618,0.000012689,0.0002179451,0.0000520365,0.0008912351],"genre_scores_gemma":[0.9957802,0.0001351778,0.003489398,0.00006411898,0.000005127584,0.00002711196,0.0003014616,0.000009460906,0.0001878593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001395884,"threshold_uncertainty_score":0.004626811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01161935814253073,"score_gpt":0.2242223851407398,"score_spread":0.212603026998209,"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."}}