SIG4_Benchmarking

SIG4 Benchmarking Datasets from the Core Unit for Bioinformatics Bonn using the Nvidia Clara Parabricks pipeline for germline variant calling on hg38: 1. WES CCG 75M Reads hg38 - "118711_75M.vcf.gz" 2. WES CCG 200M Reads hg38 - "118711_200M.vcf.gz" 3. WES Twist Bonn 200M Reads hg38 - "NA12878_HG001_Twist.vcf.gz" 4. WGS CCG hg38 - "A006200148.vcf.gz" 5. WGS Synthetic Genome hg38 - "PRJEB13208_hg38.vcf.gz" 6. SV Benchmarking Delly hg38 - "NA24385_Delly_SVs_hg38.vcf.gz"本数据集为波恩生物信息学核心单元（Core Unit for Bioinformatics Bonn）推出的SIG4基准测试数据集，基于英伟达克拉拉·帕拉布里克（Nvidia Clara Parabricks）分析流程构建，用于hg38参考基因组的种系变异检出（germline variant calling），包含以下6组数据集： 1. 全外显子组测序（Whole Exome Sequencing, WES）CCG 75M条读段 hg38：对应文件为"118711_75M.vcf.gz" 2. 全外显子组测序（WES）CCG 200M条读段 hg38：对应文件为"118711_200M.vcf.gz" 3. 全外显子组测序（WES）Twist Bonn 200M条读段 hg38：对应文件为"NA12878_HG001_Twist.vcf.gz" 4. 全基因组测序（Whole Genome Sequencing, WGS）CCG hg38：对应文件为"A006200148.vcf.gz" 5. 全基因组测序（WGS）合成基因组 hg38：对应文件为"PRJEB13208_hg38.vcf.gz" 6. 结构变异（Structural Variation, SV）基准测试Delly hg38：对应文件为"NA24385_Delly_SVs_hg38.vcf.gz"