{"id":"W2044448355","doi":"10.1016/j.clinbiochem.2014.05.033","title":"Genomics and epigenomics in pediatric oncology and clinical laboratory genetics","year":2014,"lang":"en","type":"article","venue":"Clinical Biochemistry","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Fragile X syndrome; FMR1; DNA methylation; Epigenetics; Epigenomics; Genetics; Trinucleotide repeat expansion; Biology; Gene silencing; Methylation; Medicine; Bioinformatics; Gene; Fragile x; Gene expression","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":[0.0009469924,0.0002038602,0.0003173912,0.00002886731,0.00005075246,0.00002199406,0.0001941014,0.0005749044,0.000004028093],"category_scores_gemma":[0.0005442808,0.0002203947,0.00007563047,0.00007632881,0.0003524418,0.000001798125,0.0003685222,0.0003029816,0.00000645528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001559551,"about_ca_system_score_gemma":0.0002324989,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000166414,"about_ca_topic_score_gemma":0.00002062622,"domain_scores_codex":[0.9979731,0.0001593789,0.0007578501,0.0007529653,0.00007250829,0.0002842032],"domain_scores_gemma":[0.9990187,0.0001417693,0.0001581417,0.0003593736,0.00005176268,0.0002702932],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001390408,0.0003469586,0.8709974,0.00006552375,0.00003755492,0.000006329913,0.00001842377,0.000005808318,0.08848103,0.00001243654,0.001100148,0.03878939],"study_design_scores_gemma":[0.002732959,0.0009286118,0.8975323,0.000008017156,0.00006236173,0.00001483078,0.00006580028,0.0002332241,0.02429571,0.0001917516,0.07334683,0.0005875832],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962758,0.002452345,0.00005634432,0.0002002549,0.0002433511,0.0001210485,0.00001634697,0.000008026665,0.0006264473],"genre_scores_gemma":[0.9670383,0.02921168,0.00220742,0.001085761,0.0002936555,0.000006513927,0.00004635589,0.00002934885,0.0000809202],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07224669,"threshold_uncertainty_score":0.8987435,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01601144843087209,"score_gpt":0.3176267251859973,"score_spread":0.3016152767551252,"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."}}