Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

feature request: Ignore chromosomes not in caputre file instead of failing #106

Open
FriederikeHanssen opened this issue Jun 17, 2022 · 0 comments

Comments

@FriederikeHanssen
Copy link

Thanks a lot for providing this tool!
We often analyse capture data with controlfreec were not all chromosomes from the fai are present in the capture kit. ControlFreec then fails with:

Command output:
  Control-FREEC v11.6 : a method for automatic detection of copy number alterations, subclones and for accurate estimation of contamination and main ploidy using deep-sequencing data
  Multi-threading mode using 2 threads
  ..consider the sample being male
  ..Breakpoint threshold for segmentation of copy number profiles is 1.2
  ..telocenromeric set to 50000
  ..FREEC is not going to adjust profiles for a possible contamination by normal cells
  ..Coefficient Of Variation set equal to 0.05
  ..it will be used to evaluate window size
  ..Output directory:   .
  ..Directory with files containing chromosome sequences:       /Chromosomes
  ..Sample file:        tumor.mpileup
  ..Sample input format:        pileup
  ..Control file:       normal.mpileup
  ..Input format for the control file:  pileup
  ..forceGCcontentNormalization was set to 1: will use GC-content to normalize the read count data
  ..minimal expected GC-content (general parameter "minExpectedGC") was set to 0.35
  ..maximal expected GC-content (general parameter "maxExpectedGC") was set to 0.55
  ..Polynomial degree for "ReadCount ~ GC-content" normalization is 3 or 4: will try both
  ..Minimal CNA length (in windows) is 3
  ..File with chromosome lengths:       Homo_sapiens_assembly38.fasta.fai
  ..File Homo_sapiens_assembly38.fasta.fai was read

Command error:
  For example, you can remove chromosome HLA-DRB1*11:01:01 from yourHomo_sapiens_assembly38.fasta.fai
  Error: chromosome HLA-DRB1*11:01:02 present in your Homo_sapiens_assembly38.fasta.fai file was not detected in your file with capture regions capture-regions.bed
  Please solve this issue and rerun Control-FREEC

This means that we need to adapt the fai or chromosome files everytime, which is not ideal in a workflow/automatic processing setting.

Ideally, we can have a fixed set of reference files and the above error would rather lead to an exclusion of that chromosome.

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant