{"id":"W3201049176","doi":"10.1093/hmg/ddab252","title":"Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Minority Health and Health Disparities; National Center for Research Resources; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute on Deafness and Other Communication Disorders; National Eye Institute; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; NIHR Cambridge Biomedical Research Centre; Engineering and Physical Sciences Research Council; Canadian Institutes of Health Research; National Blood Foundation; Kaiser Foundation Research Institute; University of Illinois at Urbana-Champaign; National Center for Advancing Translational Sciences; Medical Research Council; Department of Health and Social Care; National Institute on Aging; NHS Blood and Transplant; National Institute for Health and Care Research; National Institute of Neurological Disorders and Stroke; British Heart Foundation; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Scottish Government; Wellcome Trust; University of Minnesota; Health and Social Care Research and Development Division; Public Health Agency; Economic and Social Research Council; U.S. Department of Health and Human Services; COPD Foundation; Common Fund; GlaxoSmithKline; National Institutes of Health; San Diego State University; University of Miami; Pfizer; Northwestern University; Johns Hopkins University; Jackson State University; AstraZeneca; National Cancer Institute; Office of Dietary Supplements; National Institute of General Medical Sciences; Sunovion; American Heart Association","keywords":"Biology; Genetics; Genome-wide association study; Whole genome sequencing; Gene; Genetic variation; Mendelian inheritance; Genetic association; Platelet disorder; Blood Platelet Disorders; Population; Human genetics; Genome; Single-nucleotide polymorphism; Computational biology; Genotype; Platelet; Immunology; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006676428,0.0001834554,0.0004300548,0.0001417303,0.0000868002,0.00001012195,0.000333037,0.0002250578,0.00002265236],"category_scores_gemma":[0.000235274,0.0001571466,0.0002317784,0.0005096717,0.0001546044,0.000001981453,0.00005372841,0.0001114248,6.92121e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002077958,"about_ca_system_score_gemma":0.00009919321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000113465,"about_ca_topic_score_gemma":0.0002493646,"domain_scores_codex":[0.9981986,0.0003342633,0.0005664577,0.0004231812,0.0001864278,0.0002910264],"domain_scores_gemma":[0.9989548,0.0001048496,0.0002020442,0.0004281483,0.0002579748,0.00005221197],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001899427,0.00008033778,0.002452418,0.0000166208,0.0004581439,0.00001107567,0.001020863,0.01033065,0.9841986,0.0002183779,0.0001607224,0.001033139],"study_design_scores_gemma":[0.003734524,0.001709312,0.8477498,0.00004840615,0.001924155,0.00003237529,0.002659274,0.004607784,0.1020032,0.00775125,0.02690979,0.0008700426],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9620689,0.002238679,0.03420583,0.0005271398,0.00004614447,0.0003362719,0.0002530045,0.000003410481,0.0003206523],"genre_scores_gemma":[0.9924842,0.0004370529,0.003802066,0.000944042,0.00006964364,0.00005513333,0.002108854,0.00002123428,0.00007780175],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8821954,"threshold_uncertainty_score":0.6408252,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04846699216898216,"score_gpt":0.3262972047017499,"score_spread":0.2778302125327678,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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