{"id":"W2905840501","doi":"10.1371/journal.pgen.1007752","title":"BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2","year":2018,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":210,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; McGill University; Ontario Genomics","funders":"National Human Genome Research Institute; Government of Canada; Canadian Institutes of Health Research; Instituto Tecnológico de Costa Rica; Intramural Research Program; National Cancer Institute; Eidgenössische Technische Hochschule Zürich; National Institute for Health and Care Research; Genome Canada; Memorial Sloan-Kettering Cancer Center; Moonshot Research and Development Program; AstraZeneca; Bowel Cancer UK; National Health and Medical Research Council; Breast Cancer Research Foundation","keywords":"Data sharing; Biology; Population; Database; Genetics; Computer science; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001740664,0.000214352,0.0001848309,0.00005131397,0.0001048147,0.0000397455,0.000265679,0.0002656313,0.00004898436],"category_scores_gemma":[0.0001338337,0.0002396405,0.00005085166,0.000159142,0.0001948651,0.000003753556,0.0002245763,0.00007308326,0.00002264465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009473508,"about_ca_system_score_gemma":0.0001918458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001276583,"about_ca_topic_score_gemma":0.0004907402,"domain_scores_codex":[0.9985099,0.00005885,0.0002544731,0.0006042951,0.0001662956,0.0004061543],"domain_scores_gemma":[0.9991216,0.00002091426,0.00008171512,0.0005032892,0.0001547023,0.0001177776],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002730184,0.002525545,0.03792553,0.001261588,0.001677277,0.00007286601,0.009433602,0.0003620749,0.6108707,0.00299021,0.1003137,0.2298367],"study_design_scores_gemma":[0.00580917,0.003663234,0.01234159,0.0001253062,0.0001775612,0.0001198218,0.0006838934,0.00392743,0.2797056,0.005093686,0.6870537,0.001299038],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9800132,0.009161253,0.0007444361,0.001117299,0.0002644214,0.0007390918,0.0001754186,0.00002587404,0.007759005],"genre_scores_gemma":[0.992453,0.0008266913,0.004046868,0.0009168011,0.001053905,0.0001497419,0.00007617929,0.0000505872,0.0004261711],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.58674,"threshold_uncertainty_score":0.9772258,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02357402509560469,"score_gpt":0.29570849317504,"score_spread":0.2721344680794353,"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."}}