{"id":"W4239919620","doi":"10.31219/osf.io/rvm3z","title":"Genome-wide association studies (GWAS) have revolutionized our view of human health and disease genetics and offered novel gene therapy targets","year":2021,"lang":"en","type":"preprint","venue":"","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Ethnic group; Population; Genome-wide association study; Genomics; Sociocultural evolution; Disease; Data sharing; Human genetic variation; 1000 Genomes Project; Health equity; Data science; Human genome; Genetics; Biology; Health care; Medicine; Political science; Computer science; Genome; Genotype; Sociology; Gene; Alternative medicine; Demography","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01290268,0.001644209,0.002491884,0.005313727,0.002056862,0.004283119,0.001674157,0.00379551,0.02394933],"category_scores_gemma":[0.01934757,0.0009087715,0.002441426,0.006124421,0.003845491,0.004610206,0.00518787,0.005695223,0.002254678],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002008879,"about_ca_system_score_gemma":0.002923821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008023782,"about_ca_topic_score_gemma":0.01167341,"domain_scores_codex":[0.9946811,0.002622934,0.0002860762,0.001201611,0.000938285,0.0002699546],"domain_scores_gemma":[0.9706067,0.02038568,0.002734527,0.003048117,0.00217906,0.001045871],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002165782,0.001381203,0.2715819,0.005611446,0.003605172,0.001078368,0.00157535,0.00308951,0.01972266,0.06660051,0.03400565,0.5895824],"study_design_scores_gemma":[0.0003613255,0.001435291,0.3711333,0.005631648,0.002900069,0.003226284,0.004100778,0.005355038,0.009345216,0.2819144,0.3139438,0.0006528725],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"methods","genre_scores_codex":[0.1908656,0.3974914,0.1797013,0.1488004,0.005387144,0.0006476355,0.01891372,0.001403432,0.05678931],"genre_scores_gemma":[0.491473,0.3097573,0.137431,0.03353665,0.00659178,0.0007223116,0.007360054,0.0003921257,0.01273579],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.02394933,"threshold_uncertainty_score":0.08011848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04365456656880919,"score_gpt":0.3393802128453001,"score_spread":0.2957256462764909,"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."}}