{"id":"W2168257805","doi":"10.1534/g3.112.004689","title":"A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder","year":2012,"lang":"en","type":"article","venue":"G3 Genes Genomes Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":202,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; SickKids Foundation; McMaster University; University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; University of Toronto","keywords":"DPYD; Copy-number variation; Genetics; SNP array; Single-nucleotide polymorphism; Biology; SNP; Autism; Comparative genomic hybridization; Autism spectrum disorder; Candidate gene; Population; Gene; Genotype; Medicine; Genome; Pharmacogenetics; Psychiatry","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":[0.0007624254,0.0004430947,0.00102374,0.004552644,0.000622777,0.0006864056,0.0007329409,0.0004731881,0.003370584],"category_scores_gemma":[0.003046693,0.0002869903,0.0004573959,0.002991259,0.0001852443,0.0002900251,0.0009218907,0.0004190601,0.001169548],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003365127,"about_ca_system_score_gemma":0.0006068291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002399102,"about_ca_topic_score_gemma":0.004146582,"domain_scores_codex":[0.9991867,0.0000759147,0.00008029164,0.0003843769,0.0002023327,0.00007030946],"domain_scores_gemma":[0.9983374,0.0007286817,0.0002907152,0.0002920986,0.0001514934,0.0001995449],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002214412,0.000254796,0.3832437,0.00119013,0.0009642966,0.01428583,0.001316153,0.002288871,0.3206804,0.002385239,0.03415569,0.2370206],"study_design_scores_gemma":[0.0002315168,0.0004130965,0.8866761,0.0001328953,0.0007795579,0.01512689,0.0003764237,0.007273905,0.03284227,0.00284086,0.05316802,0.0001383179],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8734968,0.0049195,0.01386937,0.0007017474,0.0001083422,0.0002313475,0.0994677,0.002290981,0.004914232],"genre_scores_gemma":[0.8340868,0.00196317,0.03842014,0.0005393036,0.0001998867,0.000455367,0.1206283,0.0003533836,0.003353645],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004552644,"threshold_uncertainty_score":0.01127571,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006545916166733189,"score_gpt":0.2179582720444251,"score_spread":0.2114123558776919,"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."}}