{"id":"W2620270887","doi":"10.1016/j.ajhg.2017.04.014","title":"Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits","year":2017,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":218,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital","funders":"European Regional Development Fund; Economic and Social Research Council; National Institutes of Health; Versus Arthritis; Svenska Kulturfonden; Högskolan Dalarna; Samfundet Folkhälsan; Vetenskapsrådet; Medical Research Council; Signe ja Ane Gyllenbergin Säätiö; Knut och Alice Wallenbergs Stiftelse; Tartu Ülikool; Paavo Nurmen Säätiö; Hjärt-Lungfonden; Ministero dell’Istruzione, dell’Università e della Ricerca; Folkhälsanin Tutkimussäätiö; Erasmus Universiteit Rotterdam; ZonMw; Landstinget Dalarnas; European Commission; Diabetestutkimussäätiö; Wellcome Trust; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; National Institute of Diabetes and Digestive and Kidney Diseases; Tekes; British Heart Foundation; National Institute for Health and Care Research; National Heart, Lung, and Blood Institute; Helsingin ja Uudenmaan Sairaanhoitopiiri; Marcus och Amalia Wallenbergs minnesfond; Erasmus Medisch Centrum; Finska Läkaresällskapet","keywords":"Imputation (statistics); Quantitative trait locus; Biology; Genetic architecture; Genetics; Computational biology; Trait; Genome-wide association study; Genome; Whole genome sequencing; Anthropometry; Allele frequency; Allele; Evolutionary biology; Gene; Genotype; Computer science; Single-nucleotide polymorphism; Machine learning; Medicine","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":[0.0007435188,0.0001731897,0.0003835942,0.0001313471,0.0006165177,0.00008870829,0.000745352,0.00005344746,0.000006570579],"category_scores_gemma":[0.0004574599,0.000133191,0.0002056026,0.0001199005,0.0003549851,0.000005577027,0.0001132964,0.0001028651,0.000003891611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006313779,"about_ca_system_score_gemma":0.0001631095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003042064,"about_ca_topic_score_gemma":0.00002808611,"domain_scores_codex":[0.9985768,0.0001299772,0.0005474851,0.0002188513,0.0001849028,0.0003420305],"domain_scores_gemma":[0.9976361,0.00007556963,0.001372986,0.0004244234,0.0003467214,0.0001442435],"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":[0.000100713,0.00004330318,0.007485596,0.00000764597,0.0002227963,0.000002987235,0.0003390351,0.02802305,0.9520725,0.00000844179,0.0006189111,0.01107502],"study_design_scores_gemma":[0.001639064,0.01231809,0.9629647,0.00003128307,0.0003342414,0.0001246636,0.00210975,0.001608074,0.01241544,0.001623858,0.004229399,0.0006014576],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9415176,0.0004564289,0.05664301,0.0009268568,0.0001285427,0.0002556187,0.00004019811,0.000002542917,0.00002920238],"genre_scores_gemma":[0.9867769,0.0002128207,0.01183055,0.0003822657,0.0006092393,0.00001127362,0.0000152246,0.00003225991,0.000129436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9554791,"threshold_uncertainty_score":0.5431372,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03019572290009432,"score_gpt":0.3349476284685272,"score_spread":0.3047519055684328,"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."}}