{"id":38792,"date":"2014-12-11T02:16:03","date_gmt":"2014-12-11T02:16:03","guid":{"rendered":"http:\/\/www.mixedracestudies.org\/wordpress\/?p=38792"},"modified":"2014-12-14T22:33:23","modified_gmt":"2014-12-14T22:33:23","slug":"the-african-genome-variation-project-shapes-medical-genetics-in-africa","status":"publish","type":"post","link":"https:\/\/mixedracestudies.org\/wp\/?p=38792","title":{"rendered":"The African Genome Variation Project shapes medical genetics in Africa"},"content":{"rendered":"<p><a href=\"http:\/\/dx.doi.org\/10.1038\/nature13997\" target=\"_blank\"><em><strong>The African Genome Variation Project shapes medical genetics in Africa<\/strong><\/em><\/a><\/p>\n<p><a href=\"http:\/\/www.nature.com\/nature\" target=\"_blank\">Nature: International Weekly Journal of Science<\/a><br \/>\nPublished online: 2014-12-03<br \/>\n15 pages<br \/>\nDOI: <a href=\"http:\/\/dx.doi.org\/10.1038\/nature13997\" target=\"_blank\">10.1038\/nature13997<\/a><\/p>\n<p><strong>Deepti Gurdasani<\/strong><br \/>\n<em>Wellcome Trust Sanger Institute<\/em><br \/>\n<em>Genome Campus<\/em><br \/>\n<em>Hinxton, Cambridge, United Kingdom<\/em><\/p>\n<p><strong>et. al.<\/strong><\/p>\n<p>Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The <a href=\"https:\/\/www.sanger.ac.uk\/research\/initiatives\/globalhealth\/research\/africangenome.html\" target=\"_blank\">African Genome Variation Project<\/a> provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense <a href=\"http:\/\/en.wikipedia.org\/wiki\/Genotype\" target=\"_blank\">genotypes<\/a> from 1,481 individuals and whole-<a href=\"http:\/\/en.wikipedia.org\/wiki\/Genome\" target=\"_blank\">genome sequences<\/a> from 320 individuals across <a href=\"http:\/\/en.wikipedia.org\/wiki\/Sub-Saharan_Africa\" target=\"_blank\">sub-Saharan Africa<\/a>. Using this resource, we find novel evidence of complex, regionally distinct <a href=\"http:\/\/en.wikipedia.org\/wiki\/Hunter-gatherer\" target=\"_blank\">hunter-gatherer<\/a> and Eurasian admixture across sub-Saharan Africa. We identify new <a href=\"http:\/\/en.wikipedia.org\/wiki\/Locus_(genetics)\" target=\"_blank\">loci<\/a> under selection, including loci related to <a href=\"http:\/\/en.wikipedia.org\/wiki\/Malaria\" target=\"_blank\">malaria<\/a> susceptibility and <a href=\"http:\/\/en.wikipedia.org\/wiki\/Hypertension\" target=\"_blank\">hypertension<\/a>. We show that modern <a href=\"http:\/\/en.wikipedia.org\/wiki\/Imputation_(genetics)\" target=\"_blank\">imputation<\/a> panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African <a href=\"http:\/\/en.wikipedia.org\/wiki\/Haplotype\" target=\"_blank\">haplotypes<\/a>. Finally, we present an efficient genotype array design capturing common <a href=\"http:\/\/en.wikipedia.org\/wiki\/Genetic_variation\" target=\"_blank\">genetic variation<\/a> in Africa.<\/p>\n<p>Read the entire article <a href=\"http:\/\/www.nature.com\/nature\/journal\/vaop\/ncurrent\/pdf\/nature13997.pdf\" target=\"_blank\">here<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>The African Genome Variation Project shapes medical genetics in Africa Nature: International Weekly Journal of Science Published online: 2014-12-03 15 pages DOI: 10.1038\/nature13997 Deepti Gurdasani Wellcome Trust Sanger Institute Genome Campus Hinxton, Cambridge, United Kingdom et. al. Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1295,12,2039,8],"tags":[18701,18681,18689,18703,18690,10157,4148,18686,18672,18669,18670,18685,18702,18696,18674,18693,18705,18691,18682,18676,18692,18683,18699,18687,18688,18677,18679,18675,18671,18680,18700,18694,8122,18706,18698,18668,18684,18697,18678,18704,18695,18673,4147],"class_list":["post-38792","post","type-post","status-publish","format-standard","hentry","category-africa","category-articles","category-health-medicine","category-media-archive","tag-adebowale-adeyemo","tag-ananyo-choudhury","tag-anatoli-kamali","tag-ayesha-motala","tag-ayo-p-doumatey","tag-charles-rotimi","tag-chris-tyler-smith","tag-cristina-pomilla","tag-deepti-gurdasani","tag-dominic-kwiatkowski","tag-eleftheria-zeggini","tag-elizabeth-h-young","tag-endashaw-bekele","tag-ephrem-mekonnen","tag-fasil-tekola-ayele","tag-fatoumatta-sisay-joof","tag-fraser-pirie","tag-gershim-asiki","tag-graham-r-s-ritchie","tag-ioanna-tachmazidou","tag-janet-seeley","tag-jennifer-asimit","tag-kalifa-bojang","tag-katja-kivinen","tag-kirk-rockett","tag-konstantinos-hatzikotoulas","tag-louise-iles","tag-luca-pagani","tag-manjinder-s-sandhu","tag-martin-o-pollard","tag-michele-ramsay","tag-muminatou-jallow","tag-nature","tag-nature-international-weekly-journal-of-science","tag-neil-bradman","tag-pontiano-kaleebu","tag-rebecca-n-nsubuga","tag-rosemary-ekong-tamiru-oljira","tag-savita-karthikeyan","tag-shane-a-norris","tag-stephen-tollman","tag-tommy-carstensen","tag-yali-xue"],"_links":{"self":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts\/38792","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=38792"}],"version-history":[{"count":0,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=\/wp\/v2\/posts\/38792\/revisions"}],"wp:attachment":[{"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=38792"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=38792"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/mixedracestudies.org\/wp\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=38792"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}