{"id":"W1875931728","doi":"10.1016/j.ejmg.2015.10.004","title":"Microdeletion 8q22.2-q22.3 in a 40-year-old male","year":2015,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre for Addiction and Mental Health; Mount Sinai Hospital; University Health Network; University of Toronto; Ontario Shores Centre for Mental Health Sciences; Hospital for Sick Children","funders":"","keywords":"Haploinsufficiency; Comparative genomic hybridization; Intellectual disability; Hearing loss; Genetics; Phenotype; Biology; Chromosome; X chromosome; Medicine; Pediatrics; Gene; Audiology","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":[0.0001349363,0.001287748,0.0007527077,0.001874001,0.001261436,0.0004981131,0.0007498333,0.002515589,0.002206175],"category_scores_gemma":[0.0009641314,0.0005404889,0.0006990313,0.0008919176,0.0009389973,0.0004914805,0.0008161584,0.00122765,0.0005844112],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004466556,"about_ca_system_score_gemma":0.0004099245,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00424624,"about_ca_topic_score_gemma":0.002978795,"domain_scores_codex":[0.9997866,0.00001441068,0.00001545598,0.00009109376,0.00003875722,0.00005376957],"domain_scores_gemma":[0.9995595,0.000123026,0.00009082856,0.00002168841,0.00002670268,0.0001783167],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00007442135,0.00003135846,0.006911878,0.00001229398,0.00001097281,0.9869925,0.0001931901,0.00005083334,0.004311561,0.00009092651,0.000283004,0.001037149],"study_design_scores_gemma":[0.00001694709,0.0001745465,0.04678492,0.00001181135,0.00004203852,0.9507034,0.0001648094,0.0001652028,0.001066178,0.0001482424,0.0007013959,0.00002057902],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921708,0.001550641,0.001109702,0.001510516,0.0001634564,0.0000476983,0.0004329595,0.0001334923,0.002880685],"genre_scores_gemma":[0.9962456,0.0005985835,0.0003694019,0.0004685025,0.0001783884,0.00001193496,0.0001605388,0.00002256978,0.001944461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00424624,"threshold_uncertainty_score":0.008443058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01833005011496635,"score_gpt":0.2398456087223409,"score_spread":0.2215155586073746,"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."}}