{"id":"W4376871999","doi":"10.1161/circgen.123.004148","title":"Noncanonical Splice-Altering Variants: Hidden Culprits of Congenital Heart Disease","year":2023,"lang":"en","type":"letter","venue":"Circulation Genomic and Precision Medicine","topic":"Congenital Heart Disease Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ted Rogers Centre for Heart Research; Hospital for Sick Children","funders":"","keywords":"Medicine; splice; Heart disease; Disease; Cardiology; Genetics; Internal medicine; Gene; Biology","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":[0.002874629,0.0007425284,0.001650239,0.0008826337,0.002163155,0.00217563,0.001182889,0.02629584,0.003085471],"category_scores_gemma":[0.02044522,0.000523221,0.0009032174,0.0006676379,0.002367776,0.002259384,0.0008620322,0.02020508,0.002008485],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00160684,"about_ca_system_score_gemma":0.001941343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002938646,"about_ca_topic_score_gemma":0.004952214,"domain_scores_codex":[0.9976662,0.0008977324,0.0004063176,0.0003116058,0.0004930948,0.0002251004],"domain_scores_gemma":[0.9879841,0.009285748,0.0004258802,0.000334712,0.001015248,0.0009544113],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003705302,0.0001102984,0.014365,0.0002134399,0.0001155402,0.04592295,0.0005441312,0.0001953084,0.001791515,0.009658879,0.8826157,0.04409651],"study_design_scores_gemma":[0.0009876298,0.0003522567,0.01860851,0.00200273,0.0003874909,0.09492041,0.002097855,0.004044075,0.002061832,0.08985116,0.7844605,0.0002255462],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"editorial","genre_scores_codex":[0.002861552,0.00392096,0.0002898456,0.9771246,0.01250676,0.000009594499,0.0001047296,0.00003557599,0.003146339],"genre_scores_gemma":[0.03669586,0.006054012,0.001176329,0.7856905,0.1653413,0.00004358611,0.00008772369,0.00004696796,0.004863702],"genre_candidate":"editorial","genre_consensus":null,"teacher_disagreement_score":0.02629584,"threshold_uncertainty_score":0.01520264,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04098154121393069,"score_gpt":0.3062378049680638,"score_spread":0.2652562637541331,"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."}}