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A 2016 report on the ethnic composition of WES and WGS studies found that 84% of studies involved Europeans, only 14% & 3% of samples originated from Asia and Africa respectively. The bias is even more pronounced for studies of the non-coding genome, with only a handful of reports on population SNVs. Even though the situation is improving, the majority of studies remain biased towards Caucasian populations. This lack of variation among populations can impact awareness of how efficacious a drug may be or how likely it is to cause adverse events. However, the advent of large-scale WGS with broader populations means it is now possible to consider population specific variation within NC genomic regions.
In this work we are using publicly available data from the 1000 genomes project and the African Variome Project and combining it with data from collaborators in Africa and China to identify variations in specific populations that occur within miRNA associated regions. This work is funded by a Research Council of Norway FRIPRO grant.
