{"id":"W2411456697","doi":"10.1038/srep16803","title":"Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome","year":2015,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Hôtel-Dieu de Québec","funders":"National Human Genome Research Institute; Natural Sciences and Engineering Research Council of Canada; National Institutes of Health; Regione Toscana; Associazione Italiana per la Ricerca sul Cancro","keywords":"Cohesin; Establishment of sister chromatid cohesion; Biology; Genetics; Cornelia de Lange Syndrome; RNA polymerase II; Gene; Transcriptional regulation; Regulation of gene expression; Transcription (linguistics); Gene expression; Cell biology; Promoter; Chromatin","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":[0.0008742369,0.0001033988,0.0001110749,0.00007061478,0.00008889178,0.00006779314,0.00009265164,0.0001013178,0.00001280518],"category_scores_gemma":[0.0001008287,0.0001031641,0.00004333462,0.0001597305,0.00007858889,0.000005143938,0.0001023053,0.00004968166,0.000006388737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006098635,"about_ca_system_score_gemma":0.0002370341,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005459985,"about_ca_topic_score_gemma":0.0001460919,"domain_scores_codex":[0.9989003,0.00003826021,0.0002219241,0.0004236544,0.000172281,0.0002435851],"domain_scores_gemma":[0.9991443,0.000003052958,0.0001438925,0.000520419,0.00005671105,0.0001316659],"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":[0.00001273781,0.00007048817,0.00792885,0.00001127386,0.000008265963,0.0004477249,0.0001764584,0.0005682821,0.985162,0.0000297333,0.005197336,0.0003868067],"study_design_scores_gemma":[0.001053717,0.0004352518,0.04720989,0.00008783017,0.00003314955,0.00403594,0.0002825571,0.006759241,0.910438,0.007276581,0.02165983,0.0007280131],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971837,0.0002490306,0.0001602918,0.00006377335,0.001317941,0.0001607007,0.000004162803,0.00001242082,0.0008479439],"genre_scores_gemma":[0.996924,0.00000333655,0.0004071064,0.00003421446,0.0000426442,0.0000102537,0.0002176793,0.00001467083,0.002346131],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07472405,"threshold_uncertainty_score":0.420691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009748499147654948,"score_gpt":0.2234400664413487,"score_spread":0.2136915672936938,"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."}}