{"id":"W2016293553","doi":"10.1006/geno.2001.6549","title":"Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations","year":2001,"lang":"en","type":"article","venue":"Genomics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Institute for Cancer Research; University of Toronto; Hospital for Sick Children","funders":"National Cancer Institute","keywords":"Beckwith–Wiedemann syndrome; Imprinting (psychology); Genomic imprinting; Biology; Genetics; Pedigree chart; Proband; Gene; Phenotype; Germline mutation; Mutation; Gene expression; DNA methylation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001483198,0.0007480312,0.0003080096,0.001755926,0.0004333179,0.0004608457,0.0003417012,0.0004930588,0.002493592],"category_scores_gemma":[0.001139196,0.0002863284,0.0001928966,0.0008107144,0.0004448932,0.0002560894,0.0003039574,0.0002365351,0.0002115228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003613056,"about_ca_system_score_gemma":0.0003037641,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003615067,"about_ca_topic_score_gemma":0.002673743,"domain_scores_codex":[0.9997776,0.00003260306,0.00003318556,0.00005339438,0.00004329084,0.00005999789],"domain_scores_gemma":[0.9996446,0.0001591471,0.00007513757,0.00001441901,0.00002318048,0.00008330927],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003011885,0.0001752775,0.6791047,0.00008136256,0.0001551238,0.180598,0.00140067,0.001232546,0.1080749,0.0009432521,0.0009005468,0.02432165],"study_design_scores_gemma":[0.0001115171,0.0002677467,0.760291,0.00003739865,0.0003260574,0.2063933,0.0008188557,0.002026831,0.0269814,0.0007600172,0.001935321,0.00005067383],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984889,0.0001979268,0.0001220223,0.00005801742,0.000007815384,0.000003689819,0.0001251072,0.000007932299,0.0009884931],"genre_scores_gemma":[0.9994709,0.00009148953,0.0001811908,0.00001757469,0.00000622774,0.000003330311,0.00005859793,0.000004223572,0.0001663894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003615067,"threshold_uncertainty_score":0.008341908,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006807924696443324,"score_gpt":0.2133570150963494,"score_spread":0.2065490903999061,"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."}}