{"id":"W4403463613","doi":"10.1210/clinem/dgae730","title":"Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the <i>IGF1R</i> Gene","year":2024,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Hospital Foundation","funders":"Ministero della Salute","keywords":"Macrocephaly; Genetics; Genetic heterogeneity; Context (archaeology); Genetic testing; Biology; Genotype; Allele; Medicine; Gene; Phenotype","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":[],"consensus_categories":[],"category_scores_codex":[0.00111504,0.0001685438,0.0003525683,0.0000809185,0.0001457469,0.00006488702,0.00038258,0.0001083553,0.00002025322],"category_scores_gemma":[0.001398328,0.00009879279,0.0001943241,0.0001478694,0.0002715005,0.000008415997,0.0001543395,0.0006250584,0.00001050311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006804655,"about_ca_system_score_gemma":0.0001229527,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002787498,"about_ca_topic_score_gemma":0.00003285406,"domain_scores_codex":[0.9978232,0.0005275,0.0009280621,0.0002364589,0.0001688736,0.0003158944],"domain_scores_gemma":[0.9981498,0.001103371,0.0002483164,0.0003266605,0.00008476987,0.00008712072],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002267302,0.001943169,0.0372817,0.0002292486,0.007063531,0.002457583,0.004776557,0.01810725,0.3618208,0.04336273,0.01023348,0.5104567],"study_design_scores_gemma":[0.008212727,0.003900064,0.7798402,0.0003190544,0.00179335,0.01263186,0.001291032,0.0027006,0.02570371,0.01592436,0.1466656,0.001017494],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820811,0.01001909,0.0004581297,0.0054444,0.001470248,0.000144324,0.000006386485,0.000006812751,0.0003695479],"genre_scores_gemma":[0.9942622,0.00358089,0.0009417947,0.0004575186,0.0006316163,0.000006765147,0.000002573997,0.00002170551,0.00009488904],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7425585,"threshold_uncertainty_score":0.4028653,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03834019508968787,"score_gpt":0.3381296966635877,"score_spread":0.2997895015738998,"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."}}