{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001982347,0.0006500017,0.0007820484,0.001011486,0.0004221564,0.0008874764,0.0005080969,0.0006530299,0.001868901],"category_scores_gemma":[0.004257556,0.0004056542,0.001014393,0.00168576,0.0004495841,0.0003559885,0.001063715,0.001105139,0.0003442155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002199706,"about_ca_system_score_gemma":0.0003742889,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001542531,"about_ca_topic_score_gemma":0.003835523,"domain_scores_codex":[0.9990723,0.0003515201,0.00005386322,0.0002949295,0.0001156075,0.0001117315],"domain_scores_gemma":[0.9975016,0.001558595,0.0003009512,0.0004652509,0.00008417285,0.00008944956],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001730061,0.0003069874,0.6013925,0.000324823,0.002989274,0.001129498,0.0006319971,0.0334326,0.2330175,0.00446078,0.001604923,0.118979],"study_design_scores_gemma":[0.0002166235,0.0004206978,0.8415176,0.00006143952,0.00139645,0.001340174,0.0002754134,0.09794986,0.03787755,0.01324512,0.005602615,0.00009654064],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9100587,0.0003979865,0.08516897,0.0002341414,0.00002788357,0.00002598995,0.002597027,0.0003087412,0.001180594],"genre_scores_gemma":[0.9684171,0.0002323641,0.02688721,0.0001887473,0.00002698425,0.00002977095,0.003310873,0.00008530729,0.0008216054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001982347,"threshold_uncertainty_score":0.0104838,"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."}}