{"id":"W3124329809","doi":"10.3390/genes12020172","title":"Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome","year":2021,"lang":"en","type":"article","venue":"Genes","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"Uniparental disomy; Genomic imprinting; Genetics; Biology; Beckwith–Wiedemann syndrome; Imprinting (psychology); DNA methylation; Epigenetics; Locus (genetics); SNP array; Differentially methylated regions; Chromosome; Single-nucleotide polymorphism; Karyotype; Gene; Genotype","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":[],"consensus_categories":[],"category_scores_codex":[0.00005218844,0.0001230886,0.0001470067,0.0000201228,0.00005354767,0.0000148054,0.0001937531,0.00006510198,0.00003784596],"category_scores_gemma":[0.00001011396,0.00008576941,0.00007913593,0.0001336657,0.00006794062,0.000002433595,0.0002283686,0.00006077202,0.000002617331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006820302,"about_ca_system_score_gemma":0.00006620362,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004663404,"about_ca_topic_score_gemma":0.0002585578,"domain_scores_codex":[0.9991762,0.00004196645,0.000181911,0.0002632774,0.0001327741,0.0002038746],"domain_scores_gemma":[0.9995024,0.000002904499,0.00007712467,0.0003410901,0.00003888373,0.00003763589],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000009397646,0.0001214211,0.5538942,0.00005958842,0.00007985312,0.00004277088,0.00009712451,0.0002133976,0.4431379,0.00001876013,0.00002562246,0.002300012],"study_design_scores_gemma":[0.000698102,0.0001953753,0.5790797,0.0001437985,0.00002208338,0.001779157,0.0003536019,0.00002439488,0.4150275,0.00002236376,0.002471662,0.0001822456],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972286,0.001877068,0.0000320155,0.0002207484,0.0001239324,0.0001034744,0.00001666714,0.000003163467,0.0003943864],"genre_scores_gemma":[0.9989045,0.0001193857,0.0002038886,0.0000464191,0.00004978489,0.00001222618,0.00003619772,0.0000164808,0.000611146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02811041,"threshold_uncertainty_score":0.3497575,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005121358447455173,"score_gpt":0.1980459669205183,"score_spread":0.1929246084730631,"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."}}