Alistair Ward

VT Normalize skips multi-allelics

4

I'm running through the demo data set and seeing a SNP with a non-canonical representation. vt normalize should not output this variant, so are we sure it's running? Also, if...

This is a confusing concept and should be removed as a standard filter. Available in an advanced panel.

Allow rows to be added and removed from ranked variants

1

For example, someone may want to have the coverage as a row in the table for the purposes of prioritizing the variants. We should probably have a generic glyph for...

Allele count scaling

4

It would be better to set the scale for the allele counts to fill the tooltip.

Data entry modal problems

3

1. Open gene and select platinum data for a trio. Click load and all panels are displayed as expected. 2. Go back to the Data modal. 3. Click 'Single'. The...

When looking in some genes, there are no ClinVar variants, but with no counts it isn't always obvious if there are none, or that they failed to load. For example,...

Progress bar for loading files

1

Loaded the bookmarks for RareVariantVis and it takes a while (there are 390 bookmarks). I wonder if it would be worth putting in a progress bar for this, and maybe...

ClinVar variant missing

5

Open demo data in RAI1. There are 4 variants, 3 of which are in ClinVar. I think all the variants are actually in ClinVar, including the deletion that is not...