{"id":"W2084985708","doi":"10.1002/humu.20880","title":"Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":913,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Cancer Institute; National Human Genome Research Institute; Cancer Research UK","keywords":"Genetic testing; Cancer; Biology; Genetic predisposition; Confusion; Sequence (biology); Bioinformatics; Computational biology; Genetics; Gene; Psychology","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":[0.0004602486,0.00008439835,0.00008908847,0.00003591606,0.0002739686,0.00001599342,0.00008322082,0.00006540807,0.000005191325],"category_scores_gemma":[0.001168975,0.00007470685,0.00003984593,0.00008424502,0.0001532742,0.00001078715,0.00002564152,0.00004907456,3.466944e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007039323,"about_ca_system_score_gemma":0.0001732598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001323199,"about_ca_topic_score_gemma":0.0004023955,"domain_scores_codex":[0.9987843,0.00005448059,0.0006686084,0.0003110298,0.00008462449,0.00009696259],"domain_scores_gemma":[0.9983416,0.00007765313,0.0009480825,0.000283041,0.0003278127,0.00002187613],"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":[0.000078406,0.00005000222,0.009284784,0.00006428279,0.00002839402,8.154688e-7,0.002069018,0.001164946,0.9525674,0.0001349005,0.0007885992,0.03376847],"study_design_scores_gemma":[0.001771073,0.0007467297,0.7189567,0.00006659886,0.0001617576,0.000120897,0.001495305,0.0616731,0.2112836,0.001774686,0.001536511,0.0004130282],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9681507,0.0002000161,0.02992581,0.0008315391,0.0001136058,0.0005357278,0.0001354246,0.00001203703,0.00009516913],"genre_scores_gemma":[0.992609,0.00005763067,0.006317543,0.00007003531,0.000104089,0.0002199679,0.0004733796,0.00001303984,0.0001353358],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7412838,"threshold_uncertainty_score":0.3046457,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08981816108912699,"score_gpt":0.3678658122196691,"score_spread":0.2780476511305421,"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."}}