1. Given the issues with aligning to and detecting variants with a single reference genome (currently GRCh38), ultimately does the community need to adopt a pan-genome approach for describing genomes and eliminating biases inserted by using a single reference genome? Would a pan-genome approach help detect structural variations?
Asked by Anonymous
Thanks for the question. I think we have more work to do to know the best way to improve structural variation detection. There is potential in thinking about the pan genome approach and I think it is important to explore this. However, it may be that using de novo assembly for analyzing genomes may be the best way to identify structural variation. There is a lot of work going on in both areas and hopefully we'll have more data on the optimal approaches within the next couple of years.
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