DATAFREEZE 1 WGS CASES
DATAFREEZE 1 WGS CONTROLS
DATAFREEZE 2 WGS CASES
DATAFREEZE 2 WGS CONTROLS
GOAL TO WGS PATIENTS
GOAL TO WGS CONTROLS
The figure you see below shows the exons (orange blocks) in this gene with the variants (triangles) that were observed in the current dataset. Please hover over the variants for more information. If you are interested, you can zoom in by clicking and draging your mouse across the x-axis.
Various subsets of variants can be made (e.g. MAF<1%, MAF<0.5% or only those variants that were not observed in ExAC).
There is a tradeoff between including more variants, which might yield higher statistical power to detect association, and including to much noise and therefor reduce power. We have performed firth logistic regression on only disruptive variants (fewer variants, but hopefully a good signal to noise ratio), on disruptive + damaging variants and disruptive + damaging + missense-non-damaging variants (many variants, more noise). You can select which subset you are interested in.
If you have selected the subset of variants that you are interested in, then the genic burden plot will be updated. The mini-manhattan plots, which you can see below the genic burden pot, for Family-wise, pathways and drugable categories will be updated as well. For more information on those plots, please see the background infomation on each of the tabs.
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