{"id":"W2784264266","doi":"10.1073/pnas.1715378115","title":"Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome","year":2018,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Université du Québec à Montréal","funders":"National Institute of General Medical Sciences; National Institute on Deafness and Other Communication Disorders; Canadian Institutes of Health Research; McGill University; Génome Québec; Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie; Natural Sciences and Engineering Research Council of Canada; Université du Québec à Montréal; National Institutes of Health; Government of Canada","keywords":"Alternative splicing; RNA splicing; Genetics; Medicine; Biology; Neuroscience; Exon; Gene; 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":[0.0004832995,0.00006440307,0.0001552136,0.0001655685,0.0001005654,0.000005840728,0.0002108145,0.00004499909,0.00007569363],"category_scores_gemma":[0.0001686429,0.00004207481,0.00007475499,0.0004646424,0.001235994,0.0002561429,0.00004417212,0.00007174501,0.000002603618],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002164032,"about_ca_system_score_gemma":0.00003229477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001021668,"about_ca_topic_score_gemma":1.332499e-7,"domain_scores_codex":[0.9986178,0.000002838285,0.0002616436,0.0001348134,0.000893489,0.00008940083],"domain_scores_gemma":[0.9991757,0.00005299789,0.0002542402,0.000005420982,0.000487659,0.00002398028],"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":[0.00007394552,0.00006360096,0.02599022,0.0001319209,0.00004612669,9.625574e-9,0.0004924214,0.000004613248,0.8426557,0.130017,0.0001173206,0.0004071774],"study_design_scores_gemma":[0.0002484517,0.0002136732,0.4700448,0.0001814161,0.00002532684,0.00003640688,0.0001460994,0.0009314578,0.5017097,0.02635772,0.00005854412,0.00004637133],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864958,0.000080429,0.000002641387,0.001647766,0.00002320106,0.0001354958,0.00001510117,0.000006617541,0.01159294],"genre_scores_gemma":[0.9987072,0.0000101619,0.0004975367,0.0001261183,0.00008710398,0.000002376139,2.338427e-7,0.000002772347,0.0005664713],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4440546,"threshold_uncertainty_score":0.4554073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0599730093260939,"score_gpt":0.3195882427175764,"score_spread":0.2596152333914825,"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."}}