{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002128885,0.0004298734,0.0007562386,0.001799618,0.0007740289,0.001377565,0.0006575506,0.0007149557,0.00486617],"category_scores_gemma":[0.003672617,0.0002564462,0.001039273,0.004334689,0.0001497818,0.0002167486,0.001184786,0.000992345,0.001414204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005301893,"about_ca_system_score_gemma":0.001205101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01619488,"about_ca_topic_score_gemma":0.03257309,"domain_scores_codex":[0.9986184,0.0003356787,0.0001378331,0.0004166512,0.0003403346,0.0001511504],"domain_scores_gemma":[0.998434,0.0003937781,0.0003110885,0.000288756,0.0003859066,0.0001864358],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003617398,0.0001988634,0.5140679,0.002010082,0.006869311,0.003100685,0.001425811,0.00260903,0.08356109,0.004462445,0.2662418,0.1118354],"study_design_scores_gemma":[0.0006909474,0.0002773924,0.8379351,0.0004373135,0.002183281,0.00205839,0.0004048607,0.002517238,0.004736153,0.002266231,0.1464053,0.00008783711],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.3825663,0.006187377,0.01743205,0.002738379,0.0003119851,0.0002902835,0.5785706,0.0009334662,0.01096953],"genre_scores_gemma":[0.3750874,0.00230989,0.03043967,0.003232953,0.000256277,0.0007846648,0.5829425,0.0006564441,0.004290278],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01619488,"threshold_uncertainty_score":0.03220123,"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). Scores rank; they never assert a category."}}