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SNVcaller

A batch program for calling filter SNVs from pileup files to Variant Call Format (VCF) files.

Running

start the program by running the following command:

python3 snv_caller.py -pf <path to the pileup file> -o <output directory> 

Optional parameters

-md  --min_depth        <Minimum depth to call a variant | defult: 10>
-mbq --min_base_qual    <Minimum quality to call a variant | default: 20>
-mac --min_alt_count    <Minimum count for alternative base allele | default: 4>
-maf --min_alt_freq     <Minimum alternative frequency to call a variant | default: 0.2>
-a   --annotate         <Annotate the the SNV's with effect prediction information | default: False>

The annotation is done via VEP REST API from the Ensemble genome browser. (Peter W Harrison et al. Ensembl 2024 Nucleic Acids Res. 2024, 52(D1):D891–D899 PMID: 37953337 10.1093/nar/gkad1049)

About

simple implementation of a Single Nucleotide Variant caller that uses pileup files as input and returns a Variant Call Format (.vcf) file

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