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Medical research in Africa has yet to benefit from the advent of genome-wide association (GWA) analysis, partly because the genotyping tools and statistical methods that have been developed for European and Asian populations struggle to deal with the high levels of genome diversity and population structure in Africa. However, the haplotypic diversity of African populations might help to overcome one of the major roadblocks in GWA research, the fine mapping of causal variants. We review the methodological challenges and consider how GWA studies in Africa will be transformed by new approaches in statistical imputation and large-scale genome sequencing.

Original publication




Journal article


Nature reviews. Genetics

Publication Date





149 - 160


Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.


Humans, Chromosome Mapping, Genetics, Medical, Genetics, Population, Genotype, Polymorphism, Single Nucleotide, Genome, Human, African Continental Ancestry Group, Africa, Genetic Variation, Genome-Wide Association Study