{"id":"W4309542231","doi":"10.1101/2022.11.20.515225","title":"Large scale functional screen identifies genetic variants with splicing effects in modern and archaic humans","year":2022,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"National Institutes of Health; National Science Foundation","keywords":"Biology; Neanderthal; Alternative splicing; RNA splicing; Genetics; Gene; Evolutionary biology; Exon; Intron; RNA","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002465053,0.0002470187,0.0002252602,0.0006500438,0.0002062136,0.0002831422,0.0001912731,0.0003616385,0.0009115205],"category_scores_gemma":[0.0002817296,0.0001308144,0.0003485614,0.0003408129,0.0002857987,0.00005735444,0.0002340256,0.0002659041,0.0001764061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001388209,"about_ca_system_score_gemma":0.00007601739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005622778,"about_ca_topic_score_gemma":0.0008173107,"domain_scores_codex":[0.9998117,0.00002753525,0.00001946136,0.00006352086,0.00005779102,0.00002004553],"domain_scores_gemma":[0.9998099,0.00007179813,0.00005529894,0.00002528527,0.00001710049,0.00002061344],"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":[0.0002693411,0.00005675398,0.02228941,0.00003559973,0.00008654798,0.0004852581,0.0001158127,0.0004450684,0.9709681,0.0001753529,0.00003860881,0.005034115],"study_design_scores_gemma":[0.00007044796,0.001233342,0.5338902,0.00001977035,0.000322524,0.006662778,0.0003379601,0.009036136,0.4430911,0.0005092868,0.004783597,0.0000428556],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976508,0.00007157205,0.001642984,0.00001179827,0.000002705027,0.00001287573,0.0003796852,0.00002503917,0.0002024844],"genre_scores_gemma":[0.9960969,0.00007733624,0.002454286,0.00003303307,0.000004921084,0.00001833937,0.0008703722,0.00001814096,0.0004266154],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009115205,"threshold_uncertainty_score":0.003049374,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008917472181295618,"score_gpt":0.2222767851732875,"score_spread":0.2133593129919919,"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."}}