{"id":"W4221066745","doi":"10.1016/j.xhgg.2022.100091","title":"Stability of polygenic scores across discovery genome-wide association studies","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Children's Hospital of Philadelphia; National Institute on Drug Abuse; National Institute of Mental Health; University of Pennsylvania; National Institutes of Health","keywords":"Genome-wide association study; Biobank; Population; Genetic association; Trait; Percentile; Biology; Genetics; Medicine; Demography; Single-nucleotide polymorphism; Statistics; Genotype; Mathematics; Computer science","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":[0.0007567098,0.0001643331,0.0003211235,0.00003132213,0.0005082245,0.0000210624,0.0002033073,0.0000722819,0.00001450418],"category_scores_gemma":[0.0002684643,0.000173487,0.000101815,0.00007645497,0.0001479617,0.000006183222,0.000558777,0.0001063841,5.874145e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000112322,"about_ca_system_score_gemma":0.00005804041,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001482838,"about_ca_topic_score_gemma":0.0002192843,"domain_scores_codex":[0.998485,0.0001657924,0.0004556488,0.0004082204,0.0001530766,0.0003322207],"domain_scores_gemma":[0.9989589,0.0001393984,0.0004286022,0.0003028325,0.000120223,0.00005001601],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005040726,0.00008161514,0.9007306,0.00004240194,0.0002371557,5.021365e-7,0.0007827766,0.003712811,0.09318689,0.00008796354,0.0002390217,0.0008478634],"study_design_scores_gemma":[0.001045881,0.001180172,0.8816805,0.000004989086,0.00008889631,0.000004664488,0.005990352,0.00008402002,0.01313596,0.005271406,0.09094461,0.0005685418],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9572225,0.0416261,0.0002668134,0.0001725262,0.0001788827,0.0001900362,0.0002529912,0.000005183198,0.00008503882],"genre_scores_gemma":[0.9866335,0.01167652,0.0006672358,0.0002776497,0.0001128946,0.00004063264,0.0001351889,0.00001975399,0.0004365599],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09070559,"threshold_uncertainty_score":0.7074596,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02246942477278265,"score_gpt":0.3072403538678668,"score_spread":0.2847709290950842,"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."}}