Test data for CIBERER nextflow pipelines

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.本数据集为CIBERER流程库所维护的马赛克分析nextflow流程（mosaicism-nextflow pipeline）所用的测试文件，均为经过预处理的文件。其原始测序数据源自基因组在瓶中（Genome in a Bottle, GIAB）项目的NA18278样本，可通过链接https://www.internationalgenome.org/data-portal/search?q=NA12878获取。 本次分析选定的目标区域为：17号染色体7577873至7580187区域。 用于拷贝数变异（Copy Number Variant, CNV）分析的测试数据集test_set.tar.gz，由VISOR工具通过计算机模拟生成（关联DOI：https://doi.org/10.1093/bioinformatics/btz719），包含源自GRCh38版本22号染色体的4种不同单倍型的8种组合，平均测序覆盖度为30×。 另一套小型拷贝数变异测试集CNV_test_set.tar.gz，包含来自千人基因组计划（1000 Genomes Project）的10份hs37d5样本，每份样本的乳腺癌1号基因（Breast Cancer 1, BRCA1）的一个外显子均存在缺失变异。