Test data for CIBERER nextflow pipelines

Zusammenfassung

The test files used for the mosaicism-nextflow pipeline, owned by CIBERER pipelines, are processed files. The raw data originates from sample NA18278 from the GIAB project, accessible at https://www.internationalgenome.org/data-portal/search?q=NA12878. The specific region selected for analysis is: 17:7577873-7580187. The test dataset for CNV (test_set.tar.gz), generated in silico by VISOR (https://doi.org/10.1093/bioinformatics/btz719), consists of 8 combinations of 4 different haplotypes derived from chromosome 22 (GRCh38), at an average coverage of 30x. A small test set for CNVs (CNV_test_set.tar.gz) consists on 10 samples from 1000 genomes project (hs37d5), each of them with a deletion in one exon of BRCA1.