{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001192913,0.00131652,0.000382563,0.001374628,0.000823928,0.0004488777,0.0002336356,0.0008643014,0.006318968],"category_scores_gemma":[0.0008635293,0.0002495845,0.0002912134,0.0009277919,0.0005688838,0.0003411815,0.000698228,0.0005639973,0.0008294205],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002957484,"about_ca_system_score_gemma":0.0004012318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001755351,"about_ca_topic_score_gemma":0.002194716,"domain_scores_codex":[0.9997503,0.00003498859,0.00001811076,0.00006360237,0.00006860542,0.00006429896],"domain_scores_gemma":[0.9998266,0.00003527213,0.00004649181,0.000007600865,0.000009791195,0.00007425701],"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":[0.0004360966,0.0001069202,0.077599,0.0003645907,0.0002922026,0.767982,0.0006537502,0.0006485071,0.04070152,0.01772284,0.01554381,0.07794884],"study_design_scores_gemma":[0.00003998477,0.0001286,0.04436358,0.0001781019,0.000140106,0.9303862,0.0001921606,0.0003362693,0.004285584,0.002846202,0.01704926,0.00005378595],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9070576,0.01777418,0.007873875,0.003794667,0.001129863,0.0001847252,0.001653275,0.0007404793,0.05979141],"genre_scores_gemma":[0.9843495,0.005200848,0.004045313,0.0009800453,0.0001778266,0.00004790871,0.00042021,0.00004452332,0.004733819],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006318968,"threshold_uncertainty_score":0.02113903,"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."}}