{"id":"W1883254189","doi":"10.1002/aur.1378","title":"Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15<scp>q</scp>11.2, Specifically Breakpoints 1 to 2","year":2014,"lang":"en","type":"article","venue":"Autism Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Mental Health; Canadian Institutes of Health Research; National Institutes of Health; Fondation FondaMental; Simons Foundation; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Simons Foundation Autism Research Initiative; Howard Hughes Medical Institute","keywords":"Copy-number variation; Penetrance; Autism; Genetics; Autism spectrum disorder; Breakpoint; Transmission disequilibrium test; Gene duplication; Proband; Biology; Chromosome; Single-nucleotide polymorphism; Phenotype; Psychology; Genome; Mutation; Genotype; Gene; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006058897,0.0005487457,0.0003672155,0.0005759128,0.0001811013,0.0003683655,0.0002734744,0.0004712011,0.003809529],"category_scores_gemma":[0.003145194,0.0001822764,0.0005963933,0.000294834,0.0003252665,0.0002257803,0.0004421685,0.0003728041,0.000243002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001516158,"about_ca_system_score_gemma":0.0002108957,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003264672,"about_ca_topic_score_gemma":0.003313836,"domain_scores_codex":[0.9991044,0.0003200544,0.00005597918,0.0003432939,0.0001127647,0.00006343447],"domain_scores_gemma":[0.9983904,0.000840886,0.0003331702,0.0001495004,0.00005369715,0.0002324147],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003727565,0.0001645295,0.8661949,0.000111982,0.001192012,0.006874041,0.0003979524,0.001423573,0.08735672,0.0006914054,0.0004197669,0.0314456],"study_design_scores_gemma":[0.0000344396,0.0004333985,0.9926305,0.00001678508,0.0002927226,0.003226824,0.00005533647,0.001049099,0.001540905,0.0002103845,0.0005002288,0.00000934218],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979504,0.0004632981,0.0003779999,0.00008274821,0.000006004364,0.000004110627,0.0003232603,0.00002719905,0.0007651093],"genre_scores_gemma":[0.9993485,0.00007463532,0.0001808758,0.00001229168,0.000005055005,0.000002119481,0.0001359318,0.00000597974,0.0002346493],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003809529,"threshold_uncertainty_score":0.01274419,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01885108622471428,"score_gpt":0.3097735706138716,"score_spread":0.2909224843891573,"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."}}