{"id":"W2125827772","doi":"10.1002/ajmg.a.35651","title":"Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Uniparental disomy; Genetics; Biology; Genomic imprinting; Angelman syndrome; Germline mosaicism; Copy-number variation; Genome; DNA methylation; Karyotype; Chromosome; Gene; Somatic cell","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004339317,0.0001620294,0.0002928875,0.0000529742,0.00004914672,0.00001685858,0.0002559857,0.00005735513,0.000009686893],"category_scores_gemma":[0.0002544447,0.0001236661,0.00009322642,0.00007007943,0.0002915213,0.000005001697,0.0001838397,0.0001096499,3.303907e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000672747,"about_ca_system_score_gemma":0.00003536437,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002588198,"about_ca_topic_score_gemma":0.00001730752,"domain_scores_codex":[0.9986089,0.00005364108,0.0004108,0.000164099,0.000416727,0.0003458725],"domain_scores_gemma":[0.9989757,0.0001143395,0.0003801024,0.000161124,0.00007336337,0.0002953807],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008717613,0.0002688207,0.8109996,0.0001289787,0.0004254869,0.000004127829,0.0004413567,0.00009900272,0.00636532,0.00002127589,0.000231492,0.1809274],"study_design_scores_gemma":[0.002289751,0.003302408,0.940612,0.0002555088,0.0001998646,0.0002906017,0.002465507,0.0001003626,0.008937396,0.00003991383,0.04116778,0.0003389176],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9852776,0.005079876,0.008938657,0.0003340637,0.0001452051,0.0001813484,0.000007219797,0.00000212251,0.00003392229],"genre_scores_gemma":[0.9809134,0.007174913,0.0114269,0.0001140159,0.0002911074,0.00001213844,0.00001026774,0.00002505714,0.00003220706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1805884,"threshold_uncertainty_score":0.5042958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006956413258992593,"score_gpt":0.2585170712131538,"score_spread":0.2515606579541612,"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."}}