The Impact of Population Variation in the Analysis of MicroRNA Assignment

Assignment Task

The literature review should be based on this proposed project : MicroRNAs are small regulatory RNAs that are involved in basically all known eukaryotic biological processes. The analysis of gene expression, using RNAseq techniques, require the mapping of short reads to the reference genome. Typically, we allow one or more mismatches during the mapping process. However, this may create problems during microRNA analysis as some member of the same microRNA family differ but just one nucleotide. On the other hand, of we restrict the mapping by not allowing any mismatch, variation present in the population, and not captured by the reference genome, will prevent the read to be mapped. Here we are going to tackle this by identifying SNPs frequent in specific human populations and build an alternative human reference genome with these SNPs included. Then we will compare the results of microRNA expression analysis between the reference genome and our alternative genome. Specifically, we will identify variants present in populations of European or South Asian ancestry that are not represented in the human reference genome (hg38). This will allow us to propose a population-aware methodological framework for the analysis of gene expression of small genes (in this case, microRNAs).

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