{"id":"W2914599370","doi":"10.1186/s12920-018-0453-8","title":"Identification of exon skipping events associated with Alzheimer’s disease in the human hippocampus","year":2019,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute on Aging; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; School of Medicine, Indiana University; Genentech; U.S. National Library of Medicine; IXICO; Servier; Eisai; National Institutes of Health; University of California, San Diego; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Northern California Institute for Research and Education; University of Utah; Pfizer; Biogen; BioClinica; F. Hoffmann-La Roche; Synarc; University of Southern California; Medpace; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; Foundation for the National Institutes of Health; Alzheimer's Disease Neuroimaging Initiative; National Center for Advancing Translational Sciences; Meso Scale Diagnostics; Alzheimer's Association; National Science Foundation","keywords":"Exon; Exon skipping; Biology; Alternative splicing; Genetics; Single-nucleotide polymorphism; RNA splicing; Gene; RNA; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002600042,0.00017533,0.000262817,0.0004180831,0.000131471,0.0001869538,0.0001107411,0.0001995843,0.000472895],"category_scores_gemma":[0.0005358835,0.0001104372,0.0003125002,0.0002845125,0.0001501642,0.00008319855,0.0001259364,0.0001598927,0.00008812433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000084617,"about_ca_system_score_gemma":0.00009898655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009608535,"about_ca_topic_score_gemma":0.001533662,"domain_scores_codex":[0.9998947,0.00001775432,0.00001089091,0.00004684187,0.00001942409,0.000010377],"domain_scores_gemma":[0.9996462,0.0001376436,0.0001329504,0.00002662327,0.00002841366,0.00002821525],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001562429,0.0001177159,0.7214477,0.0001384159,0.0004269292,0.002180662,0.0002914546,0.00363004,0.2505052,0.0002525957,0.0002447494,0.01920203],"study_design_scores_gemma":[0.00003532644,0.0002591697,0.9635942,0.00002024767,0.0001903629,0.002462448,0.0001574631,0.01523592,0.01674593,0.0008699815,0.0004015469,0.00002738595],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989479,0.0001466863,0.0007215205,0.000008355173,0.000001326118,0.000003317875,0.0001113619,0.000006687154,0.00005292777],"genre_scores_gemma":[0.9989724,0.00006262125,0.000659656,0.00001223065,0.000001758309,0.000003843666,0.0002206194,0.000002998147,0.00006386182],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009608535,"threshold_uncertainty_score":0.001910448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02080665556319147,"score_gpt":0.2932734438901012,"score_spread":0.2724667883269097,"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."}}