{"id":"W4411932698","doi":"10.1016/j.gim.2025.101520","title":"Tandem splice acceptor sites: Profiling their relevance to human disease","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"B.C. Women's Hospital & Health Centre","funders":"National Human Genome Research Institute; National Institutes of Health","keywords":"splice; Computational biology; Tandem; Profiling (computer programming); Disease; Medicine; Bioinformatics; Biology; Genetics; Computer science; Pathology; Gene; Materials science","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":[0.0003674387,0.0001870037,0.0003470597,0.0008122675,0.000215969,0.0005821674,0.0002145096,0.0005987723,0.002250845],"category_scores_gemma":[0.0007311831,0.0001425839,0.0002434242,0.0008639366,0.0001750742,0.0001667893,0.0001806844,0.0005367668,0.0009284194],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001262792,"about_ca_system_score_gemma":0.0001329453,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002538609,"about_ca_topic_score_gemma":0.0004489141,"domain_scores_codex":[0.9997455,0.00006240801,0.00002161787,0.00007086409,0.00006789246,0.00003170723],"domain_scores_gemma":[0.9993773,0.000260566,0.000147103,0.00005120843,0.00006732209,0.00009645403],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009280109,0.00005035699,0.03372902,0.00009496081,0.00007545067,0.0006629662,0.0000957025,0.0004267739,0.9474301,0.0009225246,0.0002367372,0.01534735],"study_design_scores_gemma":[0.00008419524,0.001145297,0.3683283,0.00006470925,0.0004706785,0.01445973,0.0003852444,0.008853517,0.5862633,0.003880544,0.01601635,0.00004813826],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9839053,0.002996294,0.008577276,0.0001435701,0.00003637551,0.00001880951,0.00180693,0.00008079462,0.002434737],"genre_scores_gemma":[0.9894087,0.001077344,0.006321514,0.0001328818,0.00003687287,0.0000190879,0.001554215,0.00003810859,0.00141111],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002250845,"threshold_uncertainty_score":0.007529855,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01773635576361813,"score_gpt":0.3168994008509293,"score_spread":0.2991630450873111,"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."}}