{"id":"W2153457297","doi":"10.1002/ajmg.a.37134","title":"Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Holland Bloorview Kids Rehabilitation Hospital; Western University; St Joseph's Health Centre; Mount Sinai Hospital; Centre for Addiction and Mental Health; Innovation Initiatives Ontario North; University Health Network; Children's Hospital of Western Ontario; University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"Hospital for Sick Children","keywords":"Copy-number variation; Phenotype; Presentation (obstetrics); Population; Medicine; Pediatrics; Genetics; Biology; Gene","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":[0.0005022721,0.0003165754,0.0003631619,0.0009816202,0.0003486558,0.0004216844,0.0003540822,0.0004551517,0.001833564],"category_scores_gemma":[0.004027918,0.000148979,0.0001473074,0.0006865809,0.000592943,0.0002524369,0.0004143736,0.0003700365,0.0001917654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001051509,"about_ca_system_score_gemma":0.0002371713,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001130648,"about_ca_topic_score_gemma":0.000827201,"domain_scores_codex":[0.9995221,0.000142636,0.00005107649,0.0001330009,0.00009104787,0.00006008463],"domain_scores_gemma":[0.9980984,0.00107206,0.0004471029,0.0001068644,0.0001127111,0.0001628231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002391307,0.00003942461,0.9582927,0.00005720425,0.00003392157,0.01967306,0.0008877497,0.0001823222,0.01109271,0.0002229987,0.0003266862,0.008952041],"study_design_scores_gemma":[0.00002284977,0.0003422509,0.8899171,0.0000340532,0.00007030014,0.104007,0.0005764292,0.0004321925,0.002559366,0.0001721213,0.001854816,0.00001150007],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988059,0.0002969567,0.0002316533,0.00008649574,0.000004425076,0.000005213009,0.00008345962,0.000007481861,0.0004784554],"genre_scores_gemma":[0.9995661,0.0001400792,0.0001376704,0.00003279681,0.00001052366,0.000003918676,0.00006619732,0.00000304729,0.00003973224],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001833564,"threshold_uncertainty_score":0.006133854,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08671871716618368,"score_gpt":0.3370002751890998,"score_spread":0.2502815580229161,"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."}}