Repository logo
 

The African Genome Variation Project shapes medical genetics in Africa.

Simple item page
cam.issuedOnline2014-12-03
dc.contributor.authorGurdasani, Deepti
dc.contributor.authorCarstensen, Tommy
dc.contributor.authorTekola-Ayele, Fasil
dc.contributor.authorPagani, Luca
dc.contributor.authorTachmazidou, Ioanna
dc.contributor.authorHatzikotoulas, Konstantinos
dc.contributor.authorKarthikeyan, Savita
dc.contributor.authorIles, Louise
dc.contributor.authorPollard, Martin O
dc.contributor.authorChoudhury, Ananyo
dc.contributor.authorRitchie, Graham RS
dc.contributor.authorXue, Yali
dc.contributor.authorAsimit, Jennifer
dc.contributor.authorNsubuga, Rebecca N
dc.contributor.authorYoung, Elizabeth H
dc.contributor.authorPomilla, Cristina
dc.contributor.authorKivinen, Katja
dc.contributor.authorRockett, Kirk
dc.contributor.authorKamali, Anatoli
dc.contributor.authorDoumatey, Ayo P
dc.contributor.authorAsiki, Gershim
dc.contributor.authorSeeley, Janet
dc.contributor.authorSisay-Joof, Fatoumatta
dc.contributor.authorJallow, Muminatou
dc.contributor.authorTollman, Stephen
dc.contributor.authorMekonnen, Ephrem
dc.contributor.authorEkong, Rosemary
dc.contributor.authorOljira, Tamiru
dc.contributor.authorBradman, Neil
dc.contributor.authorBojang, Kalifa
dc.contributor.authorRamsay, Michele
dc.contributor.authorAdeyemo, Adebowale
dc.contributor.authorBekele, Endashaw
dc.contributor.authorMotala, Ayesha
dc.contributor.authorNorris, Shane A
dc.contributor.authorPirie, Fraser
dc.contributor.authorKaleebu, Pontiano
dc.contributor.authorKwiatkowski, Dominic
dc.contributor.authorTyler-Smith, Chris
dc.contributor.authorRotimi, Charles
dc.contributor.authorZeggini, Eleftheria
dc.contributor.authorSandhu, Manjinder S
dc.contributor.orcidAsimit, Jennifer [0000-0002-4857-2249]
dc.contributor.orcidKivinen, Katja [0000-0002-1135-7625]
dc.contributor.orcidSandhu, Manjinder [0000-0002-2725-142X]
dc.date.accessioned2018-08-15T15:59:38Z
dc.date.available2018-08-15T15:59:38Z
dc.date.issued2015-01-15
dc.description.abstractGiven the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project 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 genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation 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 haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.
dc.format.mediumPrint-Electronic
dc.identifier.doi10.17863/CAM.26234
dc.identifier.eissn1476-4687
dc.identifier.issn0028-0836
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/278857
dc.languageeng
dc.language.isoeng
dc.publisherSpringer Science and Business Media LLC
dc.publisher.urlhttp://dx.doi.org/10.1038/nature13997
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/
dc.subjectAfrica
dc.subjectAfrica South of the Sahara
dc.subjectAsia
dc.subjectEurope
dc.subjectGenetic Variation
dc.subjectGenetics, Medical
dc.subjectGenome, Human
dc.subjectGenomics
dc.subjectHumans
dc.subjectRisk Factors
dc.subjectSelection, Genetic
dc.titleThe African Genome Variation Project shapes medical genetics in Africa.
dc.typeArticle
dcterms.dateAccepted2014-10-23
prism.endingPage332
prism.issueIdentifier7534
prism.publicationDate2015
prism.publicationNameNature
prism.startingPage327
prism.volume517
pubs.funder-project-idMedical Research Council (G0801566)
pubs.funder-project-idMedical Research Council (MR/K013491/1)
pubs.funder-project-idMedical Research Council (G0901213)
pubs.funder-project-idMedical Research Council (G1001333)
pubs.funder-project-idWellcome Trust (100891/Z/13/Z)
pubs.funder-project-idWellcome Trust (090770/Z/09/Z)
pubs.funder-project-idMedical Research Council (G0801566/1)
pubs.funder-project-idMedical Research Council (G0901213/1)
rioxxterms.licenseref.startdate2015-01
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1038/nature13997

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
nature13997.pdf
Size:
8.54 MB
Format:
Adobe Portable Document Format
Description:
Published version
Licence
http://creativecommons.org/licenses/by-nc-sa/4.0/
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
DepositLicenceAgreement.pdf
Size:
417.78 KB
Format:
Adobe Portable Document Format
Download

Collections

Scholarly Works - Medicine