{"id":"W2160062138","doi":"10.6000/2292-2598.2015.03.03.2","title":"Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients","year":2015,"lang":"en","type":"article","venue":"Journal of Intellectual Disability - Diagnosis and Treatment","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Istituto Auxologico Italiano","keywords":"Angelman syndrome; UBE3A; Genomic imprinting; Genetics; Uniparental disomy; Imprinting (psychology); Biology; Allele; Intellectual disability; Chromosome 15; Multiplex ligation-dependent probe amplification; Neurodevelopmental disorder; DNA methylation; Chromosome; Gene; Ubiquitin ligase; Karyotype; Exon; Gene expression; Ubiquitin","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001004779,0.0003766964,0.0001836952,0.0009121795,0.0001665761,0.0002372823,0.0001450049,0.0002299332,0.002127478],"category_scores_gemma":[0.0005805724,0.0001165122,0.0001395969,0.0004037796,0.0002392987,0.0001135782,0.0002658455,0.0001213289,0.0002007959],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001194774,"about_ca_system_score_gemma":0.00009115271,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000537604,"about_ca_topic_score_gemma":0.000634208,"domain_scores_codex":[0.999853,0.00001729627,0.00001494389,0.00005586257,0.00003451723,0.00002431188],"domain_scores_gemma":[0.99981,0.0000370021,0.00006944885,0.00001313494,0.00001481256,0.00005562228],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001134946,0.00008991075,0.6213877,0.00009468894,0.0001114612,0.1079113,0.001300246,0.000363638,0.2410247,0.0005491414,0.0004097692,0.0256225],"study_design_scores_gemma":[0.00002759628,0.0004235935,0.7958807,0.00001532195,0.00009466452,0.1885731,0.0002702349,0.0006672538,0.01227578,0.0002353566,0.001517,0.00001950843],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989526,0.0001183533,0.0002849566,0.00001599152,0.000002442044,0.000007666742,0.0001209131,0.0000224563,0.000474556],"genre_scores_gemma":[0.9995475,0.00006485745,0.0001293345,0.000005583929,0.000003734955,0.000002558028,0.00008135055,0.000004900422,0.000160128],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002127478,"threshold_uncertainty_score":0.007117093,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02015321962538615,"score_gpt":0.2610189795998987,"score_spread":0.2408657599745125,"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."}}