100k Genomes in Africa Study
Research type
Research Study
Full title
The 100k Genomes in Africa Study
IRAS ID
227305
Contact name
Manjinder S Sandhu
Contact email
Sponsor organisation
Genome Research Ltd (operating as the Wellcome Trust Sanger Institute)
Duration of Study in the UK
8 years, 0 months, 1 days
Research summary
The 100k Genomes in Africa Study is an international collaboration, co-sponsored by the University of Cambridge (UCAM) and the Wellcome Trust Sanger Institute (WTSI), that aims to gather, combine and analyse genetic and phenotypic data from multiple studies of African populations, including population groups from Uganda, South Africa, Ghana, Malawi and elsewhere. It aims to:
1. Develop a population resource of 100,000 individuals across Africa for cardiometabolic and infectious traits.
2. Use this resource to assess biological insights into cardiometabolic and infectious disease risk factors. This will include performing a new genomewide association study (GWAS) in up to 100,000 individuals from Africa, to better understand the causes of, and genetic susceptibility to, cardiometabolic and infectious diseases and traits.
Samples and data used in the 100k Genomes in Africa Study will be pseudonymised (ie.linked-anonymised) and have appropriate ethical approvals (or equivalent regulatory approvals in instances where a country does not have a research ethics committee) and consent structures to be brought to the WTSI for genetic analyses and for sharing of data with other researchers through a managed access system. Where the original consent structures for this are not explicit, we request that the REC reviews these studies for use of existing pseudonymised samples and data.
DNA will be extracted from blood or saliva, where necessary, by a third party service provider. Generation of genetic information (genotyping, and some sequencing) will be carried out at the WTSI, or by third party service providers. Genetic data will be stored securely by the WTSI and the European Genome-phenome Archive (EGA) at the European Bioinformatics Institute (EBI), Hinxton, UK.
For external collaborators, curated pseudonymised data will be stored and made available under managed access at the EGA and through the Uganda Medical Informatics Centre in accordance with the African Partnership for Chronic Disease Research (APCDR) data release policy (https://www.apcdr.org/).
REC name
East of England - Essex Research Ethics Committee
REC reference
17/EE/0296
Date of REC Opinion
17 Jul 2017
REC opinion
Favourable Opinion