Recently, GIAB published sequencing data for a pancreatic cancer cell line with a tumor and normal sample pair (also see here: https://www.nist.gov/programs-projects/cancer-genome-bottle).
We can add this publicly available test sample for the test profile. This enables users to check the functionality of the pipeline on their infrastructure.
Further we can improve documentation with adding this example and step-by-step instructions.
Description of feature
Recently, GIAB published sequencing data for a pancreatic cancer cell line with a tumor and normal sample pair (also see here: https://www.nist.gov/programs-projects/cancer-genome-bottle). We can add this publicly available test sample for the
testprofile. This enables users to check the functionality of the pipeline on their infrastructure. Further we can improve documentation with adding this example and step-by-step instructions.The GIAB provides Illumina short-read WGS data processed with Illuminas DRAGEN workflow. We could use this VCF file, it roughly has 45k variants. https://ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/data_somatic/HG008/Liss_lab/analysis/DRAGEN-v4.2.4_ILMN-WGS_20230914/dragen_4.2.4_HG008_tumor.hard-filtered.vcf.gz