Understanding the genetic basis of human disease will benefit from an increase in the number and scale of disease-association studies that are carried out in Asian populations. In the pilot phase of the GenomeAsia project, the sample set that we analysed allowed us to address a wide range of questions regarding the history of specific Asian population groups and to map out strategies for additional sequencing efforts. We plan for a staged and coordinated approach, to include the generation of genomic population-specific reference datasets and imputation panels, and use this approach for the production of custom SNP arrays as a catalyst for disease-association studies. This approach is particularly useful in founder populations, such as recent studies in the founder populations of Finland49, as well as other populations. This will be particularly valuable in Asia14,50, which has founder effects that have not only previously been demonstrated in isolated populations, but are also evident in major urban centres.
