{"id":"W2104549677","doi":"10.1038/nature15393","title":"A global reference for human genetic variation","year":2015,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19967,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Ontario Institute for Cancer Research; McGill University and Génome Québec Innovation Centre; McGill University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Allergy and Infectious Diseases; National Cancer Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Ontario Ministry of Research and Innovation; National Key Research and Development Program of China; National High-tech Research and Development Program; Instituto de Salud Carlos III; Medical Research Council; Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; National Institutes of Health; National Institute of General Medical Sciences; H. Lundbeck A/S; Ministero dello Sviluppo Economico; Université de Genève; University of Oxford; Ewha Womans University; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Deutsche Forschungsgemeinschaft; British Heart Foundation; Bilkent Üniversitesi; Simons Foundation Autism Research Initiative; European Molecular Biology Laboratory; Biotechnology and Biological Sciences Research Council; Wellcome Trust; Broad Institute; Howard Hughes Medical Institute; National Natural Science Foundation of China; Louisiana State University; Government of Jiangxi Province; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; National Science Foundation; Massachusetts General Hospital; Harvard University; Max-Planck-Gesellschaft; Lundbeckfonden; Simons Foundation; Japan Society for the Promotion of Science; Directorate for Biological Sciences; Boston College; Alfred P. Sloan Foundation","keywords":"1000 Genomes Project; Genome; Biology; Reference genome; Genetic variation; Exome sequencing; Single-nucleotide polymorphism; Genetics; Haplotype; Indel; Structural variation; Tag SNP; Genotyping; Human genome; Computational biology; Human genetic variation; Exome; SNP genotyping; Genome-wide association study; Genotype; Mutation; Gene","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":[0.005410658,0.002222176,0.002525839,0.01250521,0.001110032,0.002603054,0.003287945,0.002414467,0.04880799],"category_scores_gemma":[0.01580052,0.0005734742,0.00117627,0.02326311,0.0009462576,0.001500366,0.003131174,0.003857905,0.04535186],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001502015,"about_ca_system_score_gemma":0.004737246,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009115411,"about_ca_topic_score_gemma":0.006501712,"domain_scores_codex":[0.9960405,0.001158748,0.0007059415,0.0009759254,0.0008693531,0.000249602],"domain_scores_gemma":[0.9947035,0.001324879,0.0005172322,0.001276043,0.001848926,0.0003294685],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0002002657,0.00004502539,0.003498382,0.003210837,0.0002455602,0.0004108041,0.0004776847,0.0008721189,0.002981222,0.02068844,0.7470376,0.220332],"study_design_scores_gemma":[0.00003557874,0.00002115382,0.00363755,0.0006592399,0.00004478062,0.0004104576,0.00006567947,0.0001959623,0.0003595238,0.005074288,0.9894747,0.00002108562],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.006644369,0.07566107,0.1233381,0.009479072,0.01414435,0.001039269,0.6603408,0.01131476,0.09803828],"genre_scores_gemma":[0.0163398,0.02494895,0.1506674,0.003667437,0.001369229,0.002521881,0.7649445,0.004391926,0.03114888],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.04880799,"threshold_uncertainty_score":0.1632789,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0230498963079842,"score_gpt":0.3247125648222862,"score_spread":0.301662668514302,"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."}}