{"id":"W3136654837","doi":"10.1038/s41467-021-22129-9","title":"G-quadruplexes originating from evolutionary conserved L1 elements interfere with neuronal gene expression in Alzheimer’s disease","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"DNA and Nucleic Acid Chemistry","field":"Biochemistry, Genetics and Molecular Biology","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital Maisonneuve-Rosemont","funders":"CIHR Skin Research Training Centre; Canadian Institutes of Health Research; Université de Montréal; Natural Sciences and Engineering Research Council of Canada; Government of Canada","keywords":"Chromatin; Biology; Genetics; Heterochromatin; Gene; RNA splicing; Polycomb-group proteins; BMI1; Cell biology; Phenotype; Transcription (linguistics); Gene expression; Conserved sequence; DNA; Alternative splicing; Exon; Repressor; Peptide sequence; RNA","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":[0.000049207,0.0001311976,0.0001014439,0.00002046827,0.0001331096,0.0000215748,0.0005350916,0.0001650367,0.00004921402],"category_scores_gemma":[0.0001108575,0.0001258097,0.00004684834,0.0001077146,0.00009795206,0.000008687802,0.0005109216,0.0004074757,0.000003417402],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001958428,"about_ca_system_score_gemma":0.0001815517,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001025849,"about_ca_topic_score_gemma":0.0001346922,"domain_scores_codex":[0.9991392,0.0001068133,0.0001884035,0.0002939145,0.0001243767,0.000147303],"domain_scores_gemma":[0.9984744,0.00004572578,0.00008095355,0.001180905,0.0001306009,0.00008748413],"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":[0.0001066061,0.0002322424,0.1190001,0.000005293771,0.00005816656,0.00001105017,0.00002747643,0.00001581518,0.8771094,0.00006871499,0.00309313,0.0002720232],"study_design_scores_gemma":[0.001121269,0.000039805,0.1316825,0.0001366244,0.00007578207,0.00001103401,0.0002015255,0.0004345488,0.8095162,0.0001462611,0.05629331,0.0003411598],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9768178,0.02051303,0.00006577153,0.001398134,0.00005876951,0.00009170441,0.0001804699,0.00001766667,0.0008566005],"genre_scores_gemma":[0.9788046,0.0005529717,0.01659131,0.0004608062,0.00006688744,0.00003909984,0.00335978,0.00001892361,0.0001056342],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06759317,"threshold_uncertainty_score":0.5130371,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01642716550568342,"score_gpt":0.2847199774402058,"score_spread":0.2682928119345224,"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."}}