{"id":"W3121074038","doi":"10.1186/s13073-020-00820-8","title":"Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease","year":2021,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":140,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Aging; American Heart Association; Canadian Institutes of Health Research; National Cancer Institute; National Institutes of Health; Vanderbilt University Medical Center; Division of Materials Research; Vanderbilt University; National Institute on Minority Health and Health Disparities; National Center for Research Resources; Georgia Clinical and Translational Science Alliance; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of General Medical Sciences; Massachusetts General Hospital; National Institute of Mental Health","keywords":"Biobank; Medicine; Heritability; Population; Disease; Biomarker; Internal medicine; Bioinformatics; Genetics; Biology; Environmental health","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001054646,0.0001080616,0.0003926094,0.00005273399,0.00004072296,0.000002320822,0.0001390755,0.000133885,0.0001541995],"category_scores_gemma":[0.009072736,0.00009920182,0.0001199694,0.0002032384,0.0002161762,0.000001908896,0.00009375792,0.0000632306,0.000004327087],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003106358,"about_ca_system_score_gemma":0.000279829,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004270036,"about_ca_topic_score_gemma":0.00006609948,"domain_scores_codex":[0.9983777,0.0002693357,0.0007079631,0.0002701565,0.0001794777,0.0001953427],"domain_scores_gemma":[0.9981577,0.0003983029,0.0004960159,0.0003552703,0.0004685226,0.0001241965],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002910311,0.00006891373,0.7681937,0.00003261625,0.000186154,0.000002064098,0.00002654024,0.00001274298,0.2229821,0.000007258581,0.008221076,0.0002378121],"study_design_scores_gemma":[0.0006512832,0.0001882506,0.9879144,0.00002207666,0.0001174183,5.737805e-7,0.0001560855,0.00001913654,0.002481383,0.0001193076,0.008243562,0.00008649977],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905333,0.005516129,0.0003674667,0.002626379,0.0002625042,0.000101074,0.0001814361,0.00000554877,0.0004061432],"genre_scores_gemma":[0.9956055,0.001508827,0.000496311,0.0006829049,0.000271155,0.000004920894,0.0005131625,0.00001208082,0.0009051748],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2205007,"threshold_uncertainty_score":0.9992743,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02205117153343956,"score_gpt":0.3143928985952057,"score_spread":0.2923417270617661,"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."}}