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

genotype call for probe #42

Open
cmccabe0728 opened this issue Sep 25, 2024 · 1 comment
Open

genotype call for probe #42

cmccabe0728 opened this issue Sep 25, 2024 · 1 comment

Comments

@cmccabe0728
Copy link

cmccabe0728 commented Sep 25, 2024

Is this the genotype of the probe or the reference? I believe it is the probe.... is there a way to add the reference genotype to it? Thank you.

from IlluminaBeadArrayFiles import GenotypeCalls, BeadPoolManifest, code2genotype

gtc_file = "path_to_genotypes.gtc"
manifest_file = "path_to_manifest.bpm"
names = BeadPoolManifest( manifest_file ).names
genotypes = GenotypeCalls( gtc_file ).get_genotypes()

c = 0  # a counter to only show the first 10 genotypes
for (locus, genotype) in zip( names, genotypes ):
    print( locus + "," + code2genotype[genotype] )
    if c >= 10:
        break
    c += 1
@jzieve
Copy link
Collaborator

jzieve commented Sep 25, 2024

It is the probe. Adding the reference requires mapping to the reference genome (essentially calling the variant, i.e., outputting a VCF). I would recommend using DRAGEN Array for that purpose, specifically the gtc-to-vcf feature: https://help.dragenarray.illumina.com/product-guides/dragen-array-local-analysis#genotype-gtc-to-vcf You can also use the open source, python version of that here: https://github.com/Illumina/GTCtoVCF but that is no longer actively maintained.

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

2 participants