{"id":"W2143442966","doi":"10.1186/1755-8166-5-17","title":"Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders","year":2012,"lang":"en","type":"article","venue":"Molecular Cytogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Credit Valley Hospital; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"National Institute of Mental Health; Wellcome Trust","keywords":"Hypotonia; Autism; Speech delay; Global developmental delay; Intellectual disability; Human genetics; Comparative genomic hybridization; Genetics; Chromosome; Autism spectrum disorder; Developmental disorder; Medicine; Pediatrics; Biology; Psychology; Psychiatry; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001541264,0.0004925468,0.0002440056,0.001318109,0.0005419496,0.0003014737,0.0003638449,0.0002576768,0.001941129],"category_scores_gemma":[0.000683995,0.0001594232,0.0001690836,0.0007665393,0.0003161839,0.0001151012,0.000373719,0.0003241619,0.0002671472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001826093,"about_ca_system_score_gemma":0.0002647869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004495225,"about_ca_topic_score_gemma":0.006357561,"domain_scores_codex":[0.9997954,0.00002402884,0.00001440094,0.00005792101,0.00007751812,0.00003075035],"domain_scores_gemma":[0.999662,0.00008038302,0.0001322527,0.00001506158,0.00004208382,0.00006822617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007772467,0.00009739264,0.4400832,0.000167595,0.0001974605,0.05089596,0.001179392,0.0009701299,0.4661218,0.0005152198,0.001768642,0.03722592],"study_design_scores_gemma":[0.00002332898,0.0001313417,0.918129,0.00003094021,0.00007450458,0.05676903,0.0003990544,0.0004519258,0.01958584,0.0002520056,0.004132638,0.00002037198],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981084,0.0003470721,0.0004563943,0.00006299795,0.000005435806,0.000007245927,0.0004419321,0.00001827939,0.0005521829],"genre_scores_gemma":[0.9973407,0.0003658994,0.0008575949,0.00002234218,0.00001375932,0.00001319923,0.000710659,0.000007866514,0.0006678606],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004495225,"threshold_uncertainty_score":0.008938134,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01105446041469911,"score_gpt":0.2138629796135392,"score_spread":0.2028085191988401,"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."}}