{"id":"W4324116955","doi":"10.1016/j.gimo.2023.100130","title":"P101: Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"","keywords":"In silico; Computational biology; splice; Biology; Genetics; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0012046,0.00009282422,0.0002856356,0.00009608181,0.00002931867,0.000007300693,0.0003118199,0.00007925302,0.00002574524],"category_scores_gemma":[0.0005629238,0.0000617914,0.0000307589,0.0003159347,0.0001638798,0.000003105347,0.0004557478,0.0001438877,6.501845e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001503858,"about_ca_system_score_gemma":0.000151882,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000910112,"about_ca_topic_score_gemma":0.0006978625,"domain_scores_codex":[0.9988518,0.0002229008,0.000351434,0.0002126953,0.0001545693,0.0002065481],"domain_scores_gemma":[0.9993267,0.0001796897,0.00008879065,0.0002749682,0.00006872754,0.00006111228],"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":[0.0001765928,0.00003718358,0.3520639,0.00002126653,0.00002673045,0.000002452194,0.0004373553,0.001320129,0.6361404,0.000004414279,0.0008776785,0.008891926],"study_design_scores_gemma":[0.001618379,0.0006957037,0.9645482,0.00008793576,0.000009591808,0.000004624384,0.0005908265,0.01660539,0.01548102,0.00005743137,0.0002211702,0.00007970489],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980107,0.0008203298,0.0002827288,0.0001626925,0.00003121031,0.0002716143,0.000009411326,0.000001281417,0.0004100346],"genre_scores_gemma":[0.9982243,0.0003776834,0.001108014,0.00003733092,0.00005237478,0.00001616796,0.00004630303,0.00001010033,0.0001277883],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6206594,"threshold_uncertainty_score":0.251978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09236327916905071,"score_gpt":0.4786565551204952,"score_spread":0.3862932759514445,"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."}}