{"id":"W2118321207","doi":"10.1136/jmg.2009.069369","title":"Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder","year":2009,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":351,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; McMaster University; University of Toronto; SickKids Foundation; Hospital for Sick Children; St. John’s Health Sciences Centre","funders":"Canadian Institutes of Health Research","keywords":"Phenotype; Autism spectrum disorder; Genetics; Biology; Copy-number variation; Autism; Gene duplication; Heritability of autism; Gene; Medicine; Genome; 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":[0.0001386882,0.0007439173,0.0002521305,0.001089064,0.0006211231,0.000258689,0.0002382228,0.0004858268,0.002004777],"category_scores_gemma":[0.0008102946,0.000214947,0.0001550047,0.0004073579,0.0003794229,0.0001393284,0.0005612794,0.000257456,0.0002295774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001873505,"about_ca_system_score_gemma":0.0001853934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002425477,"about_ca_topic_score_gemma":0.002915076,"domain_scores_codex":[0.9998005,0.00002096947,0.00002190954,0.00007088645,0.0000422404,0.00004350195],"domain_scores_gemma":[0.9997144,0.00006784304,0.00009346931,0.000009318615,0.00002515189,0.00008980886],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005484624,0.0001765299,0.800229,0.00006290743,0.00004665775,0.1435471,0.001569057,0.0001468075,0.04668345,0.0001236627,0.0004620408,0.006404441],"study_design_scores_gemma":[0.00002000563,0.0002778735,0.8157135,0.00001651443,0.00003861648,0.1818182,0.0004413676,0.0001143881,0.0011452,0.00006168048,0.0003443862,0.000008131607],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994319,0.00006123718,0.00006514246,0.00001881334,0.000002344635,0.000006555299,0.00008765541,0.000007139888,0.0003192227],"genre_scores_gemma":[0.9994562,0.0000540467,0.0001659029,0.00001909199,0.000005126546,0.000005845483,0.0001161296,0.000003009048,0.0001746069],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002425477,"threshold_uncertainty_score":0.006706655,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007442626267632695,"score_gpt":0.2431433710956851,"score_spread":0.2357007448280524,"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."}}