Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/45848
Title: Uganda Genome Resource enables insights into population history and genomic discovery in Africa
Authors: Gurdasani, Deepti
Wain, Louise
et al
First Published: 2019
Publisher: Elsevier (Cell Press)
Citation: Cell, 2019, In Press
Abstract: Genomic studies in African populations provide unique opportunities to understand disease aetiology, human diversity and population history. In the largest study of its kind, comprising genome-wide data from 6,400 individuals, and whole-genome sequences from 1,978 individuals from rural Uganda, we find evidence of geographically-correlated fine-scale population substructure. Historically, the ancestry of modern Ugandans is best represented by a mixture of ancient East African pastoralists. We demonstrate the value of the largest sequence panel from Africa to date as an imputation resource. Examining 34 cardiometabolic traits, we show systematic differences in trait heritability between European and African populations, probably reflecting the differential impact of genes and environment. In a multi-trait pan-African GWAS of up to 14,126 individuals, we identify novel loci associated with anthropometric, haematological, lipid and glycemic traits. We find that several functionally important signals are driven by Africa-specific variants, highlighting the value of studying diverse populations across the region.
DOI Link: TBA
ISSN: 0092-8674
Links: TBA
http://hdl.handle.net/2381/45848
Embargo on file until: 1-Jan-10000
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © Elsevier (Cell Press) 2019. After an embargo period this version of the paper will be an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
Description: Summary GWAS and allele frequency data are publicly available at https://www.ebi.ac.uk/gwas/downloads/summary-statistics. The combined UG2G+AGV imputation panel is available for imputation from the Haplotype Reference Consortium:http://www.haplotype-reference-consortium.org/participating-cohorts. All individual level data, phenotype, genotype and sequence data are available under managed access to researchers. Requests for access to the phenotypic data will be granted for all research consistent with the consent provided by participants. This would include any research in the context of health and disease, that does not involve identifying the participants in any way. The UMIC committees are responsible for curation, storage, and sharing of phenotypic and genetic data under managed access. The array and low and high depth sequence data have been deposited at the European Genomephenome Archive (EGA, http://www.ebi.ac.uk/ega/, accession numbers EGAS00001001558/EGAD00010000965, EGAS00001000545/EGAD00001001639 and EGAS00001000545/EGAD00001005346 respectively). Requests for access to data may be directed to segun.fatumo@mrcuganda.org. While data cannot be released on public databases as this would conflict with the study protocol and participant consent under which data were collected, we aim to facilitate data access for all bona fide researchers. Applications are reviewed by an independent data access committee (DAC) and access is granted if the request is consistent with the consent provided by participants within two weeks of submission. The data producers may be consulted by the DAC to evaluate potential ethical conflicts. Requestors also sign an agreement which governs the terms on which access to data is granted.
The file associated with this record is under embargo until 12 months after publication, in accordance with the publisher's self-archiving policy. The full text may be available through the publisher links provided above.
Appears in Collections:Published Articles, Dept. of Health Sciences

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