{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002497817,0.0003210525,0.0004556556,0.001612898,0.0002820456,0.001434149,0.0004809932,0.0009822218,0.002117601],"category_scores_gemma":[0.004106626,0.0002372531,0.0002127488,0.001733676,0.001244159,0.001628189,0.0009869683,0.001269662,0.000325682],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007215294,"about_ca_system_score_gemma":0.0009731177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001474945,"about_ca_topic_score_gemma":0.0014195,"domain_scores_codex":[0.9990797,0.0006031746,0.00004796608,0.00008964646,0.0001101125,0.00006924971],"domain_scores_gemma":[0.9969662,0.002034393,0.000348309,0.0001706575,0.0002256386,0.0002547833],"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":[0.0004202145,0.0002393479,0.2631571,0.0005875542,0.000237972,0.004123548,0.001157718,0.00414268,0.01430235,0.1786002,0.02372499,0.5093063],"study_design_scores_gemma":[0.00004586309,0.0003483765,0.4083126,0.0008322576,0.000247903,0.02306073,0.00267049,0.008787747,0.01198489,0.3145176,0.2290631,0.000128406],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.3611634,0.3710405,0.09601747,0.1024161,0.001645644,0.0001304625,0.002254969,0.0006873469,0.06464396],"genre_scores_gemma":[0.8489372,0.09936198,0.0318482,0.00887975,0.003138473,0.000115728,0.0005763595,0.00008814198,0.007054184],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002497817,"threshold_uncertainty_score":0.01320988,"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."}}