Skip to content

v0.2

Choose a tag to compare

View all tags
@edg1983 edg1983 released this 26 Jul 10:23
· 34 commits to main since this release
v0.2
7387a8d

This new release introduces a new output format to generate files needed to perform rare variants association tests using regenie.

  • new rarevar_set output format. This output format generates 2 output files: the first file (.annot) contains variants impact annotations (variant id, gene id, impact), while the second file (.setlist) contains the list of variants associated with each gene (gene id, chrom, position, variant id list).
  • new --scores argument to refine impact annotations based on values in the INFO field. You can pass a JSON file to the --scores option to configure value thresholds to be applied for a specific impact and the variant annotation for that impact will reflect the number of scores thresholds that are passed (like missense-1, missense-2).

You can grab the new executable from this release.

Assets 3
Loading