{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001973993,0.0001828086,0.0003394927,0.00002836686,0.00003930125,0.00002216675,0.0001267306,0.00008862273,0.00003647583],"category_scores_gemma":[0.001737074,0.000115529,0.0001206168,0.0001417511,0.0002225778,0.000008617387,0.0001422618,0.00006659714,0.00000155784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001378337,"about_ca_system_score_gemma":0.00008644793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001849384,"about_ca_topic_score_gemma":0.0001012035,"domain_scores_codex":[0.9987823,0.0001346957,0.0005115833,0.0002086079,0.0001865767,0.0001762826],"domain_scores_gemma":[0.9991717,0.0001538836,0.0001920321,0.0001995182,0.0001356526,0.0001471795],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000845385,0.001290592,0.9808611,0.00002631792,0.0001766291,0.000002583632,0.001690218,0.00009226961,0.0001992266,0.000007737246,0.0002050226,0.01536372],"study_design_scores_gemma":[0.002712904,0.006055717,0.9802098,0.0001408385,0.0001261218,0.0001885591,0.0013928,0.0003113758,0.007232287,0.0007639661,0.0006619502,0.0002036898],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978482,0.001488962,0.00001061842,0.0001509583,0.000125282,0.0002671571,0.00001612903,0.00000162073,0.0000910644],"genre_scores_gemma":[0.9992177,0.0005624539,0.0001248538,0.00003321749,0.00002101198,0.00001154,0.000003762234,0.000009314747,0.00001616101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01516003,"threshold_uncertainty_score":0.4711135,"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."}}