Matt Velinder

Add UniProt, HumanMine and ProteinAtlas gene resource links

3


When selecting sample IDs from dropdown, prompt user if they've selected the same sample ID for multiple individuals in trio, or if they've done something similarly "stupid". Ie, "Warning, proband...

Clinvar variants track reverts back to counts when switching between genes

2

When displaying Clinvar variants, if you click a gene card again (same gene or another gene) it reverts back to counts, not variants. Once counts (or variants) is set, we...

Clicking the gene name for EBF3 links out to http://www.genecards.org/cgi-bin/carddisp.pl?gene=MAPRE3 - where EBF3 is listed as an alias name for MAPRE3 However, the correct gene name is EBF3 and the...

Be able to "bookmark" or flag coverage issues in gene, similar to bookmarking a variant - and be able to export these data insufficiency bookmarks same way as variant bookmarks...

 For example, RAI1 is associated with Smith-Magenis syndrome - possibly for replacing HPO genotype-phenotype hover over in gene cards.

Running outside of the install dir?

1

It'd be preferred to be able to run the tool outside of the install directory. Ie: `python ~/bin/StrVCTVRE.py -i input.vcf.gz -o output.vcf.gz -f vcf -p /path/to/hg38.phyloP100way.bw` The workaround I've found...