{"id":"W3161833585","doi":"10.1038/s41436-021-01172-3","title":"ACMG SF v3.0 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":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":562,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"National Institutes of Health","keywords":"Medical genetics; Exome sequencing; Statement (logic); Genomics; Exome; Medicine; Family medicine; Genome; Genetics; Biology; Mutation; Political science","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":[0.001639745,0.0001481782,0.00061581,0.00009961687,0.00002776394,0.000002921859,0.000237024,0.000130541,0.000006015376],"category_scores_gemma":[0.002267305,0.0001209182,0.00008104946,0.000225581,0.0007853899,0.000001349745,0.0004190469,0.0001401715,2.065465e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003586643,"about_ca_system_score_gemma":0.001169019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001285153,"about_ca_topic_score_gemma":0.0004761601,"domain_scores_codex":[0.9971038,0.0001022273,0.00195429,0.0003593904,0.0002542312,0.0002260992],"domain_scores_gemma":[0.998154,0.0001163886,0.00102949,0.0003998178,0.0001706335,0.000129608],"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":[0.0001819851,0.0001590208,0.2370059,0.0006187125,0.0001211951,0.00005180895,0.000660988,0.0001207333,0.7558031,0.0002365116,0.0001393197,0.004900699],"study_design_scores_gemma":[0.006259767,0.002126751,0.7431719,0.0004828277,0.0001842533,0.0002345305,0.009920062,0.001247704,0.2260639,0.001780796,0.008059923,0.0004675764],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918696,0.006455338,0.00006865387,0.00095643,0.00006984412,0.0002996932,0.000239104,0.000001390159,0.00003989138],"genre_scores_gemma":[0.9852995,0.01150888,0.002569505,0.000375509,0.0001473516,0.00000961922,0.00004053401,0.00002462251,0.00002453882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5297392,"threshold_uncertainty_score":0.4930901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04381757001942078,"score_gpt":0.3745103097250284,"score_spread":0.3306927397056076,"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."}}