Traditional association techniques used in GWAS studies are not really suitable for sequence analysis, because they do not have the power to detect the significance of rare variants individually, nor do they provide tools for measuring their compound effect, referred to as rare variant burden. To do this, it is necessary to "collapse" several variants into a single covariate based on regions such as genes.
http://doc.goldenhelix.com/SVS/latest/collapsing_methods.html
interesting to note that SVS has already added rare variant analysis into their toolshed. I believe this was a collaboration with Baylor. Wondering if new methods might be added or would researchers use CMC & KBAC more as it is avail in a commercial package ..
No comments:
Post a Comment