{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002023122,0.001255629,0.0006019567,0.001743748,0.001058564,0.0005373706,0.0005572397,0.001327179,0.001522334],"category_scores_gemma":[0.001171368,0.0006355286,0.0003709863,0.001011631,0.001022772,0.0004317445,0.001141155,0.001045251,0.0002599521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004451972,"about_ca_system_score_gemma":0.0006049434,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002944025,"about_ca_topic_score_gemma":0.003455048,"domain_scores_codex":[0.9996127,0.00004876947,0.0000399461,0.0001184167,0.00009290519,0.00008717478],"domain_scores_gemma":[0.9995617,0.0001055546,0.00009999419,0.00001636031,0.00002256812,0.0001938153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001277601,0.00006799604,0.05177325,0.00004677272,0.00003567357,0.9328395,0.0006424666,0.0001132166,0.008783949,0.0003311305,0.000471657,0.004766595],"study_design_scores_gemma":[0.00001826477,0.0001699797,0.05036835,0.00002050768,0.0000421519,0.9468996,0.0001989332,0.0001826384,0.001223184,0.0001288136,0.0007291409,0.00001842017],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955639,0.001009725,0.0009280501,0.0005234964,0.0000765156,0.00002901182,0.0001842578,0.00008990746,0.001595216],"genre_scores_gemma":[0.9980283,0.0005593371,0.0007050416,0.0001982196,0.00006859308,0.000009112694,0.00008903827,0.0000137495,0.0003284542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002944025,"threshold_uncertainty_score":0.005853772,"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."}}