{"id":"W2149783871","doi":"10.1186/1755-8166-7-23","title":"Adult expression of a 3q13.31 microdeletion","year":2014,"lang":"zh","type":"article","venue":"Molecular Cytogenetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Genomics; Hospital for Sick Children; University of Toronto; SickKids Foundation; Centre for Addiction and Mental Health","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Microdeletion syndrome; Proband; Genetics; Copy-number variation; Intellectual disability; Tics; Phenotype; Biology; Medicine; Gene; Psychiatry; Genome; Mutation","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":[0.0001082144,0.0002491057,0.000183064,0.000329179,0.0001837749,0.0001654788,0.0001119047,0.000251177,0.002120369],"category_scores_gemma":[0.0003630404,0.000112553,0.0001707812,0.0002407987,0.0001921634,0.0001066756,0.0002672116,0.0002370917,0.0002465209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001513216,"about_ca_system_score_gemma":0.0001020209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008917281,"about_ca_topic_score_gemma":0.001218432,"domain_scores_codex":[0.9999104,0.000007897394,0.000009481781,0.00002902759,0.00002238091,0.00002073511],"domain_scores_gemma":[0.999755,0.00006442639,0.0001029558,0.00001503192,0.00002103599,0.00004151651],"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":[0.0004596758,0.00003934722,0.229674,0.0001086718,0.0000717927,0.02374544,0.0004249285,0.0003356029,0.7317206,0.0002407084,0.0003973614,0.01278183],"study_design_scores_gemma":[0.00001359442,0.0003626979,0.8811624,0.00002540474,0.00007879968,0.05554923,0.0001982362,0.0004514289,0.05991709,0.0002146238,0.002013842,0.00001262261],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984415,0.0002523797,0.0006256085,0.00003026658,0.000003981808,0.000005271474,0.0003157259,0.00002135224,0.0003039818],"genre_scores_gemma":[0.9985084,0.0001889628,0.0006422391,0.00002263121,0.000004044814,0.000005877206,0.0003602203,0.000004240207,0.0002632993],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002120369,"threshold_uncertainty_score":0.00709337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005582696230838333,"score_gpt":0.207466692386794,"score_spread":0.2018839961559557,"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."}}