{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005168901,0.0005371834,0.0006188296,0.002357906,0.000520547,0.001294958,0.0007061589,0.0005433456,0.002894388],"category_scores_gemma":[0.0156186,0.000301737,0.001099657,0.003049674,0.000540301,0.0003533872,0.00122206,0.0007835231,0.0004254543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004519407,"about_ca_system_score_gemma":0.0007780712,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004855878,"about_ca_topic_score_gemma":0.006531064,"domain_scores_codex":[0.994896,0.001985557,0.0004670041,0.001769801,0.0006101239,0.0002715038],"domain_scores_gemma":[0.9841935,0.007520693,0.004000884,0.002304468,0.001452763,0.0005277111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002608233,0.00003888063,0.9866513,0.00007417479,0.0009746933,0.0001319578,0.0001175083,0.0005596405,0.002683194,0.0002347628,0.001062135,0.007211039],"study_design_scores_gemma":[0.00003131809,0.0001088606,0.9940235,0.00002375544,0.0004160378,0.000325396,0.00005772624,0.002093413,0.001045668,0.0005668838,0.001293981,0.00001343488],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9667498,0.0009524575,0.01936516,0.0004910678,0.00003105995,0.0001135467,0.01047815,0.0002761951,0.001542573],"genre_scores_gemma":[0.9839855,0.0001904629,0.009435666,0.0002096084,0.00004012294,0.0001306288,0.005673214,0.00005254091,0.0002823741],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005168901,"threshold_uncertainty_score":0.02733606,"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."}}