{"id":"W4205971533","doi":"10.1016/j.gim.2021.12.003","title":"DNA methylation episignature in Gabriele-de Vries syndrome","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; St Joseph's Health Care; Western University","funders":"Centre Hospitalier Universitaire de Rennes; Hospices Civils de Lyon; Universitetet i Oslo; Centre Hospitalier Universitaire de Poitiers; Centre Hospitalier Universitaire de Clermont-Ferrand; Centre Hospitalier Régional Universitaire de Montpellier; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Centre National de la Recherche Scientifique; Genome Canada; University of California, San Diego; Texas Children's Hospital","keywords":"Missense mutation; DNA methylation; Genetics; Hypotonia; Phenotype; Methylation; Biology; DNA; Bioinformatics; Gene; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0005124598,0.0001034111,0.0001470204,0.0001167489,0.00007160118,0.000004776132,0.0001785152,0.00008028068,0.0002440495],"category_scores_gemma":[0.00006058039,0.0001060522,0.00002441536,0.0001985211,0.00006008093,0.000001782525,0.0001377612,0.0001911473,0.000001476305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006416821,"about_ca_system_score_gemma":0.00008433525,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007756389,"about_ca_topic_score_gemma":0.0001290062,"domain_scores_codex":[0.9990222,0.0001337501,0.0002520225,0.0002184569,0.0001550455,0.0002185403],"domain_scores_gemma":[0.9996445,0.00001810285,0.00005695733,0.0002198199,0.00002268033,0.00003800631],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001841137,0.0002413156,0.1693762,0.00009271979,0.00007184281,0.0002011147,0.005885988,0.03229817,0.778173,0.003056155,0.004454028,0.005965282],"study_design_scores_gemma":[0.005950279,0.002956749,0.694718,0.00009348043,0.00006904484,0.0007359913,0.01154034,0.001810979,0.08858804,0.01604284,0.1764529,0.001041357],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936936,0.003442405,0.0004596347,0.0009257839,0.000201129,0.0001382596,0.00001629686,0.000005748157,0.001117134],"genre_scores_gemma":[0.9976372,0.0003116932,0.0005884084,0.0004675671,0.0001183795,0.00005366616,0.0001611123,0.00001466649,0.0006473547],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.689585,"threshold_uncertainty_score":0.4324685,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009411601342518772,"score_gpt":0.2481474446146138,"score_spread":0.238735843272095,"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."}}