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Merge pull request #2 from moka-guys/v1.1.0
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V1.1.0 (#2)
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RachelDuffin authored Dec 8, 2023
2 parents 4d15a55 + 1aea237 commit 54f062c
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6 changes: 3 additions & 3 deletions README.md
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dnanexus_normals_readcount_analysis_v1.0.0
dnanexus_normals_readcount_analysis_v1.1.0
Exome depth is run in two stages. Firstly, read counts are calculated and the second step filers out the CNVs of interest. Read counts are calculated over the entire genome and the CNVs are filtered out using a subpanel BED file.

CNV calling can be performed by providing a readcount file for a set of known normals.

dnanexus_normals_readcount_analysis_v1.0.0 calculates readcounts for a panel of normals samples intended to use as an input for https://github.com/moka-guys/dnanexus_ED_readcount_analysis
dnanexus_normals_readcount_analysis_v1.1.0 calculates readcounts for a panel of normals samples intended to use as an input for https://github.com/moka-guys/dnanexus_ED_readcount_analysis

What does the app do?
This app runs the read count calculation stage for a set of known normals.

Using the provided DNANexus project and the list of Pan numbers the app downloads BAMs and BAI.

A Docker image containing Exome depth is downloaded from 001 - The Exomedepth image taken from https://github.com/moka-guys/seglh-cnv/releases/tag/v2.0.0
A Docker image containing Exome depth is downloaded from 001 - The Exomedepth image taken from https://github.com/moka-guys/seglh-cnv/releases/tag/v2.1.0

The readCount.R script is then called, producing a readcount file (normals.RData)

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9 changes: 6 additions & 3 deletions dxapp.json
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{
"name": "ED_panel_of_normals_v1.0.0",
"title": "ED_panel_of_normals_v1.0.0",
"summary": "v1.0.0 - Create panel of normals for cnv calling",
"name": "ED_panel_of_normals_v1.1.0",
"title": "ED_panel_of_normals_v1.1.0",
"summary": "v1.1.0 - Create panel of normals for cnv calling",
"dxapi": "1.0.0",
"properties": {
"github release": "v1.1.0"
},
"inputSpec": [
{
"name": "project_name",
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4 changes: 2 additions & 2 deletions src/code.sh
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#!/bin/bash
# ED_panel_of_normals_v1.0.0
# ED_panel_of_normals_v1.1.0

# The following line causes bash to exit at any point if there is any error
# and to output each line as it is executed -- useful for debugging
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mark-section "setting up Exomedepth docker image"
# Location of the ExomeDepth docker file
docker_file_id=project-ByfFPz00jy1fk6PjpZ95F27J:file-GYzKz400jy1yx101F34p8qj2
docker_file_id=project-ByfFPz00jy1fk6PjpZ95F27J:file-Gbjy9yj0JQXkKB8bfFz856V6
# download the docker file from 001_Tools...
dx download $docker_file_id --auth "${API_KEY}"
docker_file=$(dx describe ${docker_file_id} --name)
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