{"id":"W4413893022","doi":"10.1038/s41569-025-01201-7","title":"Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine","year":2025,"lang":"en","type":"review","venue":"Nature Reviews Cardiology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"","keywords":"Medicine; Atlas (anatomy); Genomic medicine; Precision medicine; Internal medicine; Bioinformatics; Computational biology; Pathology; Anatomy","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":[0.002500408,0.0009293438,0.001563087,0.004344945,0.0002355579,0.002022165,0.001776035,0.001859078,0.008983077],"category_scores_gemma":[0.006604703,0.0004421793,0.0009948883,0.002672433,0.000639682,0.001714492,0.001226159,0.003273781,0.004001323],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009049553,"about_ca_system_score_gemma":0.001821796,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001788507,"about_ca_topic_score_gemma":0.003494409,"domain_scores_codex":[0.9992027,0.0002136119,0.00009889695,0.0001013067,0.0003348973,0.0000485904],"domain_scores_gemma":[0.9959794,0.00259617,0.0003357342,0.0002109003,0.0006888858,0.0001888242],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005602771,0.00001689856,0.0004118958,0.004047936,0.0002318347,0.0003122952,0.00006642145,0.000987087,0.001711329,0.01250298,0.1304488,0.8492065],"study_design_scores_gemma":[0.00003138279,0.00002385715,0.001205256,0.002740543,0.0002426098,0.001452338,0.00004013575,0.0005905831,0.0006771999,0.02144705,0.9715102,0.00003872827],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0006655008,0.9376126,0.03455744,0.009462991,0.003321152,0.00005599284,0.002323072,0.001611688,0.01038954],"genre_scores_gemma":[0.006381913,0.9294649,0.04267649,0.006135465,0.004406504,0.0001060074,0.003506514,0.000279402,0.007042846],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.008983077,"threshold_uncertainty_score":0.03005141,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01601039471676742,"score_gpt":0.3343791539596913,"score_spread":0.3183687592429238,"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."}}