{"id":"W4245280555","doi":"10.1002/ajmg.c.30058","title":"Beckwith–Wiedemann syndrome","year":2005,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":261,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Beckwith–Wiedemann syndrome; Epigenetics; Genomic imprinting; Biology; Genetics; Monozygotic twin; Wilms' tumor; Phenotype; Bioinformatics; DNA methylation; Gene","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":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.003048913,0.0004461472,0.0008681283,0.000252897,0.00008123642,0.00004328437,0.001805081,0.0005668621,0.0009431271],"category_scores_gemma":[0.001656095,0.0004040984,0.0003186952,0.0005259535,0.001082812,0.000006960717,0.0005850593,0.0009660646,0.00004758147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006110506,"about_ca_system_score_gemma":0.001018447,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001174199,"about_ca_topic_score_gemma":0.00005146817,"domain_scores_codex":[0.9929323,0.0003514923,0.001827755,0.0005787283,0.003367315,0.0009424787],"domain_scores_gemma":[0.9966421,0.0001548215,0.000723828,0.0006622903,0.0002522838,0.001564677],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007675746,0.0008836991,0.03969293,0.00005168484,0.0002813201,0.000697284,0.0003944951,0.0009862053,0.003769668,0.00001903342,0.01162814,0.9415188],"study_design_scores_gemma":[0.006164426,0.01191086,0.04163508,0.002105403,0.0002532644,0.02545373,0.002335409,0.006320144,0.01273857,0.0001732366,0.8890368,0.001873083],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9771259,0.01476493,0.002403854,0.004231538,0.0008032979,0.0001664314,0.000005365448,0.000009910802,0.0004887665],"genre_scores_gemma":[0.9447152,0.03646382,0.0142396,0.002789759,0.001386537,0.00001118717,0.00001511029,0.00008368009,0.0002951094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9396457,"threshold_uncertainty_score":0.9999701,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008731687724892948,"score_gpt":0.2862721011150667,"score_spread":0.2775404133901738,"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."}}