Skip to content

Commit

Permalink
update readme
Browse files Browse the repository at this point in the history
  • Loading branch information
jethror1 committed Sep 19, 2024
1 parent e3ef358 commit e16ce5b
Showing 1 changed file with 9 additions and 11 deletions.
20 changes: 9 additions & 11 deletions README.md
Original file line number Diff line number Diff line change
@@ -1,8 +1,8 @@
<!-- dx-header -->
# dnanexus_vcf_QC (DNAnexus Platform App)
# eggd_vcf_qc (DNAnexus Platform App)

## What does this app do?
This app runs a python script to perform simple vcf QC.
This app runs a python script to calculate the mean het, mean hom and het:hom ratio of non reference variants in a given vcf.

## What are typical use cases for this app?
This app should be executed stand-alone or as part of a DNAnexus workflow for a single sample.
Expand All @@ -11,16 +11,14 @@ This app should be executed stand-alone or as part of a DNAnexus workflow for a
The app requires a VCF file (.vcf) containing variants to be evaluated and a bed file defining the regions within which variants in the vcf should be evaluated.

## What does this app output?
The app outputs one file, where [outPrefix] is the vcf filename without extension:
1. [outPrefix].vcf.QC is a tab delimited file containing:
- sample id
- mean het ratio (mean AAF of het variants)
- mean hom ratio (mean AAF of hom variants)
- het:hom ratio (ratio of het to hom variants on autosomes)
- X het:hom ratio (ratio of het to hom variants on chrX)
The app outputs one tab delimited file `[vcf_prefix].vcf.qc`, where `vcf_prefix` is the vcf filename without extension:

## How does this app work?
The app runs a bash script which runs the python script which generated the output file. The output file is then uploaded to dnanexus.
* sample id
* mean het ratio (mean AAF of het variants)
* mean hom ratio (mean AAF of hom variants)
* het:hom ratio (ratio of het to hom variants on autosomes)
* X het:hom ratio (ratio of het to hom variants on chrX)


## This app was made by EMEE GLH

0 comments on commit e16ce5b

Please sign in to comment.