{"id":"W2738162112","doi":"","title":"Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene","year":2017,"lang":"en","type":"article","venue":"UNIFESP Institutional Repository (Universidade Federal de São Paulo)","topic":"Advanced Vision and Imaging","field":"Computer Science","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Minigene; Medicine; splice; Ophthalmology; Biology; Genetics; Alternative splicing; Gene; Exon","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":[0.001605995,0.0007419985,0.0006746263,0.002102735,0.0009394671,0.001436096,0.0009152719,0.001839102,0.005527136],"category_scores_gemma":[0.004523978,0.000406353,0.0008616229,0.001089806,0.0006384158,0.0004255954,0.0007179402,0.0007702733,0.001764807],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004040828,"about_ca_system_score_gemma":0.0005303093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001979362,"about_ca_topic_score_gemma":0.003754939,"domain_scores_codex":[0.9982821,0.0002239166,0.000246,0.0006499483,0.0004422791,0.0001558925],"domain_scores_gemma":[0.9971789,0.001609261,0.0004795587,0.0003338775,0.0002015663,0.0001967555],"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":[0.003902247,0.0003578708,0.2257447,0.0005985037,0.0004629854,0.02443217,0.001994097,0.003491738,0.6521118,0.002781296,0.005969746,0.07815285],"study_design_scores_gemma":[0.0007483792,0.001223681,0.4168921,0.0007503559,0.001568966,0.07151247,0.001314137,0.02172439,0.4187985,0.003401448,0.06182701,0.0002386008],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9759336,0.0006548818,0.01058855,0.0004020226,0.0001496348,0.0001366202,0.008620952,0.0005633301,0.002950386],"genre_scores_gemma":[0.9634681,0.0003221907,0.02462054,0.0005800761,0.00006937244,0.00009674067,0.009215557,0.0004448247,0.001182544],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005527136,"threshold_uncertainty_score":0.01849014,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02582341956546736,"score_gpt":0.271797026930954,"score_spread":0.2459736073654867,"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."}}