{"id":"W3204993651","doi":"10.1016/j.cjca.2021.07.141","title":"WHOLE GENOME SEQUENCING IDENTIFIES NOVEL CRYPTIC SPLICE SITE VARIANTS IN CHILDREN WITH CARDIOMYOPATHY","year":2021,"lang":"en","type":"article","venue":"Canadian Journal of Cardiology","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto Public Health","funders":"","keywords":"Genetics; splice; Cardiomyopathy; RNA splicing; Splice site mutation; Exon; Alternative splicing; Exon skipping; Gene; Biology; Medicine; Heart failure; Internal medicine; RNA","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0002194207,0.000483733,0.0003098209,0.0008196735,0.0004309965,0.0004856123,0.0003696324,0.0008807871,0.001587669],"category_scores_gemma":[0.001394159,0.0002209845,0.0002975159,0.0007385035,0.0005365371,0.000211728,0.0003047518,0.0005503739,0.0002269616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002289186,"about_ca_system_score_gemma":0.0002658037,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002648636,"about_ca_topic_score_gemma":0.003450384,"domain_scores_codex":[0.9996952,0.00003595625,0.00003086214,0.00008664156,0.00008115117,0.00007017852],"domain_scores_gemma":[0.9994317,0.000289274,0.0001443704,0.0000241025,0.00004123724,0.00006936408],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006190569,0.00009557316,0.8704942,0.00007156569,0.0001007887,0.03851555,0.001343618,0.0008879136,0.0682498,0.0006889863,0.001308263,0.01762475],"study_design_scores_gemma":[0.00002277562,0.0001288839,0.9580918,0.0000319563,0.00007184868,0.03493414,0.00068172,0.0005979,0.0039444,0.0003397171,0.001140487,0.00001435437],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998583,0.0002063509,0.0002559467,0.0001301124,0.00001145173,0.000003511597,0.0003579133,0.00001131434,0.000440508],"genre_scores_gemma":[0.9990483,0.0001324866,0.0003326446,0.00007013599,0.00001664232,0.00000429644,0.0002275323,0.00001142873,0.0001564691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002648636,"threshold_uncertainty_score":0.005311251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01070380619037712,"score_gpt":0.223479227728156,"score_spread":0.2127754215377789,"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."}}