{"id":"W2118767483","doi":"10.1159/000072837","title":"The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence","year":2003,"lang":"en","type":"review","venue":"Cytogenetic and Genome Research","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":140,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Biology; Genetics; Minisatellite; Trinucleotide repeat expansion; Genome instability; DNA methylation; Epigenetics; Repeated sequence; Gene; Locus (genetics); Microsatellite instability; Chromatin; Microsatellite; Chromosome instability; DNA; Computational biology; Allele; Gene expression; Genome; DNA damage; Chromosome","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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.004020035,0.0005215734,0.001266149,0.000259331,0.0009001172,0.0002391832,0.0008393468,0.0002171108,0.00005579965],"category_scores_gemma":[0.0111429,0.0003886424,0.0003339867,0.0009592153,0.001962106,0.00006890408,0.001081129,0.0004708003,0.00004618692],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002064063,"about_ca_system_score_gemma":0.00102639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002049699,"about_ca_topic_score_gemma":0.00001134106,"domain_scores_codex":[0.9877284,0.006512026,0.001488995,0.001742024,0.00150415,0.001024475],"domain_scores_gemma":[0.9933112,0.003687603,0.0003611176,0.001164083,0.0004870767,0.0009889326],"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":[0.001828878,0.003861559,0.008617547,0.008159481,0.0006530201,0.000299019,0.0005658209,0.00002112976,0.2297159,0.005046951,0.001946015,0.7392846],"study_design_scores_gemma":[0.001346069,0.002293298,0.01000579,0.003460508,0.0005154979,0.00002623304,0.00005448241,0.00002664171,0.008985598,0.0003617113,0.9718873,0.001036855],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1994398,0.7969568,0.0000113454,0.00007281209,0.0001491433,0.003024428,0.0002581074,0.00001601134,0.00007148583],"genre_scores_gemma":[0.2193728,0.7795817,0.0000236566,0.00005723475,0.00006164772,0.0004616515,0.00002047252,0.00005074455,0.0003701389],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9699413,"threshold_uncertainty_score":0.9998565,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2530038039349053,"score_gpt":0.4649329355934499,"score_spread":0.2119291316585447,"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."}}