{"id":"W4381598122","doi":"10.1016/j.gim.2023.100866","title":"ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":417,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; National Human Genome Research Institute; Genentech; National Institutes of Health; National Cancer Institute; Regeneron Pharmaceuticals","keywords":"Medical genetics; Exome sequencing; Context (archaeology); Genomics; Exome; Medicine; Genetics; Family medicine; Genome; Biology; Mutation; 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":[0.002275705,0.0001494278,0.0005852996,0.0001752786,0.00003048402,0.000002521534,0.0002838512,0.000128709,0.000003367597],"category_scores_gemma":[0.002016387,0.0001188111,0.00007544637,0.0003319978,0.00084391,0.000001330061,0.000426067,0.0001326174,5.333984e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000326181,"about_ca_system_score_gemma":0.0007078478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000169193,"about_ca_topic_score_gemma":0.0003295524,"domain_scores_codex":[0.9971282,0.00008344762,0.001924822,0.0003399827,0.0002673379,0.0002561331],"domain_scores_gemma":[0.9982369,0.0001352586,0.001022451,0.0003696034,0.000108512,0.0001272769],"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":[0.0002711633,0.0001238773,0.3303544,0.0008128078,0.0001377927,0.00004038196,0.001072989,0.0002930246,0.6595016,0.0002365775,0.000403775,0.006751691],"study_design_scores_gemma":[0.004773297,0.002200439,0.9137606,0.0003577482,0.0001200112,0.00007853522,0.008051697,0.002421743,0.06046241,0.001685328,0.005706659,0.0003815379],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958658,0.002392353,0.00003383344,0.0009302404,0.00007343484,0.0004047402,0.0002683998,0.000002997736,0.00002822051],"genre_scores_gemma":[0.9876485,0.01082766,0.001023101,0.000238976,0.000148405,0.000014358,0.00004432923,0.00002809015,0.00002657827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5990391,"threshold_uncertainty_score":0.4844977,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05331542734098311,"score_gpt":0.3864521903934062,"score_spread":0.3331367630524231,"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."}}