{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002189874,0.0003960178,0.0003793895,0.00009290095,0.0001223833,0.00004684338,0.0004138585,0.0004796047,0.00005793162],"category_scores_gemma":[0.0001229628,0.0004297863,0.0003036005,0.0001478476,0.0001742151,0.000004434235,0.0003123121,0.0001481859,0.00003470283],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000315228,"about_ca_system_score_gemma":0.0001652772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003522183,"about_ca_topic_score_gemma":0.00001217472,"domain_scores_codex":[0.9978358,0.0001261458,0.0006790632,0.0005913943,0.0003033515,0.0004642569],"domain_scores_gemma":[0.9980744,0.00001480254,0.0003688857,0.0009223427,0.0004569095,0.0001626421],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000077012,0.000189416,0.005844318,0.0001796321,0.00008678334,0.000004240933,0.0001639636,0.0006948313,0.9859302,0.003904381,0.0006647104,0.002260501],"study_design_scores_gemma":[0.0009059043,0.000677408,0.0005435521,0.0001029635,0.0001345161,0.00002597733,0.0001303409,0.000110076,0.980891,0.001063429,0.01495365,0.0004611167],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9568457,0.002186498,0.02776806,0.0002119248,0.0003404797,0.0003182345,0.0001476155,0.00001448992,0.01216699],"genre_scores_gemma":[0.9911975,0.0006669149,0.006064967,0.0003423539,0.0002842631,0.00002200356,0.0003210091,0.00007037702,0.001030616],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03435179,"threshold_uncertainty_score":0.9998154,"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."}}