{"id":"W4214873330","doi":"10.1101/2022.02.28.22271320","title":"An Alzheimer’s disease pathway uncovered by functional omics: the risk gene <i>CELF1</i> regulates <i>KLC1</i> splice variant E expression, which drives Aβ pathology","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"Natural Sciences and Engineering Research Council of Canada; SENSHIN Medical Research Foundation; Ligue Contre le Cancer; Japan Society for the Promotion of Science; Japanese Brain Bank Network for Neuroscience Research","keywords":"Exon; Alternative splicing; Immunoprecipitation; RNA splicing; Transcriptome; Biology; Gene; RNA; Gene expression; Genetics","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003727793,0.000650952,0.0005859092,0.0005870465,0.000379443,0.001024725,0.0002475806,0.000503727,0.002686655],"category_scores_gemma":[0.0003450587,0.0001850012,0.0005431802,0.0005171078,0.0002727841,0.0004175486,0.0004465556,0.0007194079,0.0006680376],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003961513,"about_ca_system_score_gemma":0.000469466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000693062,"about_ca_topic_score_gemma":0.0009270139,"domain_scores_codex":[0.9997595,0.00002315625,0.00001282994,0.00008826581,0.00007788347,0.00003836398],"domain_scores_gemma":[0.9997949,0.00004539221,0.00006193432,0.00004196965,0.0000249474,0.00003080999],"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":[0.0003996127,0.00004987207,0.01374424,0.0003556847,0.0001931187,0.0007596617,0.00007721804,0.001147179,0.9568042,0.003239635,0.003771846,0.01945781],"study_design_scores_gemma":[0.0001547312,0.0002645257,0.2153295,0.0002031844,0.0007644717,0.003991624,0.0003446754,0.03794002,0.6380399,0.02311001,0.07975236,0.0001048569],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9022502,0.007578154,0.04389652,0.004458112,0.0004677663,0.00004874209,0.03034822,0.002247787,0.008704603],"genre_scores_gemma":[0.9457322,0.003315276,0.02684515,0.00100393,0.0001350419,0.00004890949,0.01911751,0.0003701939,0.003431646],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002686655,"threshold_uncertainty_score":0.008987725,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01310441074384493,"score_gpt":0.2504219857373216,"score_spread":0.2373175749934767,"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."}}