{"id":"W3110810749","doi":"10.2217/epi-2020-0328","title":"DNA Methylation at the <i>DMPK</i> Gene Locus is Associated with Cognitive Functions in Myotonic Dystrophy Type 1","year":2020,"lang":"en","type":"article","venue":"Epigenomics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cégep de Jonquière; Université du Québec à Chicoutimi; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; McGill University Health Centre; Université de Sherbrooke","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Muscular Dystrophy UK","keywords":"Myotonic dystrophy; dNaM; Biology; Locus (genetics); DNA methylation; Cognition; Genetics; Methylation; Gene; Southern blot; Neuropsychology; Trinucleotide repeat expansion; Internal medicine; Neuroscience; Medicine; Allele; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001653697,0.000215877,0.0001827414,0.0003907456,0.0001870486,0.000167334,0.0001115117,0.0002021799,0.001334607],"category_scores_gemma":[0.0005232388,0.00007701541,0.0001169579,0.000260816,0.0001204156,0.00008215252,0.0001457136,0.0001865971,0.0001480718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001351329,"about_ca_system_score_gemma":0.00006501385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001318596,"about_ca_topic_score_gemma":0.001600321,"domain_scores_codex":[0.9999118,0.00002086862,0.000009631039,0.00003039964,0.00001336356,0.00001394547],"domain_scores_gemma":[0.9997626,0.0000573893,0.0001103539,0.00001175368,0.00002158895,0.00003633324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001128186,0.00006014694,0.9394056,0.00004640337,0.0001210848,0.0003522077,0.0001559572,0.0001800542,0.0489962,0.00003757705,0.0001280162,0.009388529],"study_design_scores_gemma":[0.000006597528,0.000126484,0.996057,0.000005140213,0.00003182608,0.0008226479,0.00003809487,0.0002477697,0.002495744,0.00003684697,0.0001284225,0.000003372681],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993993,0.0001631197,0.000151147,0.00001313662,0.000001365102,0.0000019093,0.0001430427,0.00000447038,0.0001226082],"genre_scores_gemma":[0.999535,0.0000461411,0.0001449861,0.000007029906,0.000002449072,0.000002057591,0.0001307902,0.000001248903,0.00013031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001334607,"threshold_uncertainty_score":0.004464686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03897600572990328,"score_gpt":0.2443060295766357,"score_spread":0.2053300238467325,"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."}}