{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01173793,0.0009216022,0.001486551,0.00569582,0.001473487,0.005298248,0.004801746,0.001648452,0.1027938],"category_scores_gemma":[0.03011868,0.0009516762,0.0008979072,0.006356157,0.00057859,0.004569908,0.008260692,0.002587869,0.03708664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001194054,"about_ca_system_score_gemma":0.005091983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006715192,"about_ca_topic_score_gemma":0.007218329,"domain_scores_codex":[0.996478,0.0010951,0.0003650381,0.0006066583,0.001097984,0.000357236],"domain_scores_gemma":[0.9779428,0.006975929,0.001749511,0.004663152,0.0021467,0.006522011],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005987448,0.00007867883,0.003952249,0.0002702369,0.00007597749,0.0002558347,0.0002325069,0.0004632479,0.0008541585,0.006108458,0.9267575,0.06035225],"study_design_scores_gemma":[0.0005381018,0.00006748483,0.006281246,0.00027153,0.00006546014,0.0005547819,0.0001836787,0.001958895,0.001042088,0.008092203,0.9808653,0.00007919227],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.01146424,0.004665458,0.06716487,0.02490115,0.002175608,0.002108472,0.6982172,0.06927812,0.120025],"genre_scores_gemma":[0.03581231,0.002292216,0.09986807,0.006574973,0.001369463,0.002320767,0.8032892,0.01865798,0.02981505],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.1027938,"threshold_uncertainty_score":0.3438795,"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."}}