{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003494822,0.00009448702,0.0001888795,0.0000713192,0.00006118113,0.00001309285,0.0001148557,0.0001663862,0.00002403153],"category_scores_gemma":[0.0002199607,0.00007979345,0.00003933533,0.00009850599,0.00008725203,0.000003662021,0.00004119855,0.0001037084,8.740157e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002934846,"about_ca_system_score_gemma":0.0001547138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001145972,"about_ca_topic_score_gemma":0.000312336,"domain_scores_codex":[0.9991174,0.00004934812,0.0003556302,0.0001118568,0.0001910874,0.0001746609],"domain_scores_gemma":[0.9994553,0.00006634855,0.0002103398,0.00009176871,0.0000445421,0.0001317437],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001083309,0.0006324259,0.986167,0.00003789785,0.0002543146,0.00000823738,0.0007063353,0.0005125199,0.006223013,0.001824357,0.0003684489,0.003157156],"study_design_scores_gemma":[0.002879081,0.001496187,0.9833077,0.00009595054,0.0001084076,0.0001536597,0.0001941993,0.0004027158,0.005334232,0.003090705,0.002774253,0.0001629654],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873053,0.00182807,0.002021076,0.008641165,0.00002135002,0.0001261767,0.00003868748,0.000001876778,0.00001625211],"genre_scores_gemma":[0.9959195,0.002348278,0.001373746,0.0002088629,0.00006261327,0.00000914516,0.00002373179,0.000008959196,0.00004512081],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008614197,"threshold_uncertainty_score":0.3253882,"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."}}