{"id":"W4213429914","doi":"10.1101/2022.02.18.22271049","title":"Performance of polygenic risk scores in screening, prediction, and risk stratification","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Population Health Research Institute","funders":"British Heart Foundation; National Institute for Health and Care Research; UK Research and Innovation","keywords":"Odds ratio; Odds; Population; Medicine; Population stratification; Interquartile range; Demography; Polygenic risk score; Framingham Risk Score; Statistics; Receiver operating characteristic; Logistic regression; Internal medicine; Biology; Disease; Genetics; Environmental health; Mathematics; Single-nucleotide polymorphism; Genotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.1015417,0.001569425,0.001552052,0.005118782,0.0005646537,0.003370935,0.001467855,0.001113987,0.001499265],"category_scores_gemma":[0.125944,0.0004964323,0.001476117,0.003977087,0.002327615,0.002278567,0.002148703,0.001442386,0.0005850515],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007602655,"about_ca_system_score_gemma":0.001246861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003469398,"about_ca_topic_score_gemma":0.001850291,"domain_scores_codex":[0.9372727,0.05147913,0.00220207,0.004067036,0.004163886,0.0008150822],"domain_scores_gemma":[0.7961572,0.1625802,0.01462356,0.01477221,0.009612595,0.002254298],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008649161,0.00007899963,0.9219274,0.0001862674,0.001523793,0.00005761674,0.0002653848,0.007758539,0.0003496301,0.001728108,0.0009372634,0.06432205],"study_design_scores_gemma":[0.00009004951,0.001743739,0.834888,0.0004022816,0.001457719,0.0008786655,0.0003765427,0.1321051,0.002251503,0.02163408,0.003996201,0.000176265],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8540065,0.01502818,0.1132821,0.003357788,0.0002867576,0.0003276086,0.002807761,0.0006189588,0.01028434],"genre_scores_gemma":[0.9849064,0.000680893,0.01338026,0.0001611271,0.0001328904,0.0000445344,0.0004595678,0.00003333552,0.0002009484],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1015417,"threshold_uncertainty_score":0.5370103,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01375072272968133,"score_gpt":0.2552121528571523,"score_spread":0.241461430127471,"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."}}