{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001733657,0.0002276541,0.0002332622,0.00007959047,0.00008736699,0.00003551126,0.0002405836,0.000154625,0.00008310957],"category_scores_gemma":[0.000003798515,0.0002099253,0.00007469116,0.0002164553,0.00009645857,0.00001512163,0.00018489,0.00007720515,0.00001477383],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002690634,"about_ca_system_score_gemma":0.000133817,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000546833,"about_ca_topic_score_gemma":0.0001339807,"domain_scores_codex":[0.998621,0.00008781956,0.0003716791,0.000279942,0.0001806963,0.000458838],"domain_scores_gemma":[0.9992092,0.00002247227,0.0001709733,0.0004825591,0.00002824008,0.00008655241],"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":[0.0000255231,0.0001919023,0.9831036,0.00003434671,0.0001192113,8.437856e-7,0.0008849677,0.001798186,0.005807918,0.002166295,0.00009029175,0.005776948],"study_design_scores_gemma":[0.002559173,0.000536062,0.4058258,0.00004655139,0.0001965735,0.0001034638,0.002514386,0.00007208943,0.07155081,0.0009255287,0.5145017,0.001167904],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9306614,0.0633201,0.003647339,0.0001982817,0.0001166501,0.0003044697,0.0002314028,0.00001061817,0.001509682],"genre_scores_gemma":[0.9874544,0.006145947,0.004474679,0.0000838311,0.0002051033,0.00004651672,0.0003165052,0.00004154331,0.001231451],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5772778,"threshold_uncertainty_score":0.8560507,"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."}}