{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008195487,0.0001765142,0.000166471,0.0000396981,0.0002485018,0.00004685406,0.0001791064,0.0000452315,0.0001591205],"category_scores_gemma":[0.000681047,0.0001365769,0.00005144759,0.0006584053,0.0001470066,0.00006584393,0.00009866111,0.0001709047,0.0003075974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001254944,"about_ca_system_score_gemma":0.0001406797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001034358,"about_ca_topic_score_gemma":0.0000774432,"domain_scores_codex":[0.9985258,0.0002761412,0.0002056307,0.0004974701,0.0002245235,0.0002704327],"domain_scores_gemma":[0.9991516,0.0003264277,0.0001325385,0.0001885072,0.0000911566,0.0001097693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002814304,0.00008569146,0.002808963,0.000003792349,0.00002354116,0.00002731413,0.00112376,0.004981956,0.9898856,0.00003628939,0.0004451569,0.0002965374],"study_design_scores_gemma":[0.0006217372,0.0002523663,0.009242569,0.000006377939,0.00005555101,0.00000245982,0.0001051385,0.001073382,0.9876913,0.00005320659,0.0007134425,0.0001825056],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965487,0.0001419595,0.0004868524,0.001309012,0.0001330116,0.0004845266,0.0002530833,0.000043866,0.0005989518],"genre_scores_gemma":[0.994974,0.00004242877,0.00001944606,0.004366005,0.00006129505,0.00003280375,0.00003756638,0.00003600375,0.0004304275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006433606,"threshold_uncertainty_score":0.5569444,"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."}}