{"id":"W2171777347","doi":"10.1038/nature09534","title":"A map of human genome variation from population-scale sequencing","year":2010,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8075,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University; Université de Montréal; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"National Center for Research Resources; National Institute of Environmental Health Sciences; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Mental Health; National High-tech Research and Development Program; Engineering and Physical Sciences Research Council; Max-Planck-Gesellschaft; Howard Hughes Medical Institute; National Natural Science Foundation of China; Louis-Jeantet Foundation; Deutsche Forschungsgemeinschaft; Leverhulme Trust; Government of Jiangxi Province; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; National Institute on Alcohol Abuse and Alcoholism; National Key Research and Development Program of China; U.S. National Library of Medicine; British Heart Foundation; Doris Duke Charitable Foundation; Wellcome Trust; Translational Genomics Research Institute; National Science Foundation; Pew Charitable Trusts; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Medical Research Council; Ministero dello Sviluppo Economico","keywords":"1000 Genomes Project; Genetics; Biology; Genome; Human genome; Structural variation; Haplotype; Reference genome; DNA sequencing; Genomics; Population; Allele frequency; Computational biology; Single-nucleotide polymorphism; Allele; Gene; Genotype","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":[0.001527339,0.0008124475,0.0009718881,0.006475384,0.0006249651,0.00201586,0.0007388907,0.0009368311,0.005908993],"category_scores_gemma":[0.005165231,0.0004676226,0.001123792,0.008689008,0.0005972062,0.0009560105,0.00161836,0.002213883,0.003129852],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001169158,"about_ca_system_score_gemma":0.002373625,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009464724,"about_ca_topic_score_gemma":0.005801638,"domain_scores_codex":[0.9987815,0.0002084432,0.00006988781,0.0004764876,0.0003714938,0.00009215009],"domain_scores_gemma":[0.9985871,0.0004594856,0.0003031029,0.0001649464,0.0003302874,0.0001549946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0008152429,0.00021348,0.09822878,0.004977958,0.002152027,0.002950715,0.002274216,0.02015929,0.05871809,0.0390733,0.06859689,0.70184],"study_design_scores_gemma":[0.0002449708,0.0003842917,0.5418173,0.0009399026,0.0006345774,0.00190715,0.0006678144,0.009008663,0.003534305,0.09902409,0.3416333,0.0002037032],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3379416,0.06781268,0.3475483,0.00889749,0.001468589,0.001178413,0.1548849,0.007111973,0.07315613],"genre_scores_gemma":[0.5537472,0.03503824,0.2468473,0.002406546,0.0007900142,0.001395595,0.1513475,0.0007318812,0.00769577],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.009464724,"threshold_uncertainty_score":0.01976758,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0037086023042886,"score_gpt":0.2324753325618751,"score_spread":0.2287667302575865,"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."}}