{"id":"W2126254109","doi":"10.1093/hmg/ddt551","title":"Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Canadian Institutes of Health Research","keywords":"Biology; Trinucleotide repeat expansion; Huntingtin; Myotonic dystrophy; Cerebellum; Genetics; DNA repair; Genome instability; Huntington's disease; Huntingtin Protein; Striatum; DNA replication; Gene; DNA damage; Allele; Neuroscience; Internal medicine; DNA; Disease; Dopamine; Mutant","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":[0.00007975921,0.0002166824,0.0002180557,0.000436965,0.0001044674,0.0002547386,0.00009926852,0.0002188349,0.0008664721],"category_scores_gemma":[0.0001073966,0.0001505459,0.0001560365,0.0002153585,0.0001621004,0.0001166462,0.0001241993,0.0002467781,0.0002783095],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001130855,"about_ca_system_score_gemma":0.00008112561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006287067,"about_ca_topic_score_gemma":0.00113206,"domain_scores_codex":[0.9998851,0.000005767625,0.000008150691,0.00005237765,0.00002577284,0.00002285504],"domain_scores_gemma":[0.9998615,0.00001334284,0.00007277726,0.000008092364,0.00001638723,0.00002793337],"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":[0.00007826008,0.000007321778,0.005070223,0.00001308098,0.00001190145,0.0000306979,0.0000179173,0.00001417151,0.9941513,0.00001145992,0.00001208651,0.0005816129],"study_design_scores_gemma":[0.000007416078,0.0003084684,0.700124,0.000006950686,0.00007155725,0.0009670286,0.0001019584,0.0004019478,0.2970253,0.00006590535,0.0009105856,0.000008858716],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976744,0.0006258395,0.0006408636,0.00002261045,0.000003253659,0.000003733513,0.0006677923,0.00002607425,0.0003354698],"genre_scores_gemma":[0.9949104,0.0005226078,0.001324786,0.00003032907,0.000005303878,0.00001633991,0.001493987,0.00001402323,0.001682142],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008664721,"threshold_uncertainty_score":0.002898633,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0548396839972285,"score_gpt":0.2865638976369409,"score_spread":0.2317242136397124,"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."}}