Sawfish Bioinformatics App Note SV VCFs and assessment results

This tarball "sawfish_publication_sv_vcfs_and_assessments.tar.gz" contains structural variant VCFs from analyses in the sawfish Bioinformatics App Note, as well as the corresponding VCF assessment results and assessment scripts. The corresponding Bioinformatics article can be found here: https://doi.org/10.1093/bioinformatics/btaf136The top 3 levels of of the tarball file tree are as follows: sawfish_publication_sv_vcfs_and_assessments ├── CEPH1463_pedigree_analysis │ ├── assessment_scripts │ │ ├── ceph.GRCh38.viterbi.oa.csv.gz │ │ ├── get_gqcut.bash │ │ ├── get_pass_ge50.bash │ │ └── run_concordance.bash │ ├── README.md │ └── sv_calls │ ├── pbsv │ ├── sawfish │ └── sniffles ├── HG002_depth_titration │ ├── assessment_scripts │ │ ├── giab_cmrg │ │ ├── giab_t2t_20241113 │ │ └── truvari_utils │ ├── benchmark_data │ │ ├── cmrg_1.0 │ │ └── T2T_V0.019-20241113_T2T-HG002-Q100v1.1 │ ├── README.md │ ├── reference_fasta │ │ ├── human_GRCh38_no_alt_analysis_set.fasta │ │ ├── human_GRCh38_no_alt_analysis_set.fasta.fai │ │ └── README.md │ ├── singuarlity_images │ │ ├── README.md │ │ └── truvari-v4.2.2.sif │ └── sv_calls │ ├── pbsv │ ├── sawfish │ └── sniffles └── README.md本tar格式压缩包（tarball）`sawfish_publication_sv_vcfs_and_assessments.tar.gz`包含了来自sawfish生物信息学应用笔记分析所得的结构变异（structural variant, SV）变异调用格式（Variant Call Format, VCF）文件，以及对应的VCF评估结果与评估脚本。相关生物信息学研究文章可通过以下链接获取：https://doi.org/10.1093/bioinformatics/btaf136。该压缩包的前三级文件目录结构如下： sawfish_publication_sv_vcfs_and_assessments ├── CEPH1463家系分析 │ ├── 评估脚本 │ │ ├── ceph.GRCh38.viterbi.oa.csv.gz │ │ ├── get_gqcut.bash │ │ ├── get_pass_ge50.bash │ │ └── run_concordance.bash │ ├── README.md │ └── 结构变异调用结果 │ ├── pbsv │ ├── sawfish │ └── sniffles ├── HG002测序深度梯度分析 │ ├── 评估脚本 │ │ ├── giab_cmrg │ │ ├── giab_t2t_20241113 │ │ └── truvari_utils │ ├── 基准数据集 │ │ ├── cmrg_1.0 │ │ └── T2T_V0.019-20241113_T2T-HG002-Q100v1.1 │ ├── README.md │ ├── 参考基因组序列目录 │ │ ├── human_GRCh38_no_alt_analysis_set.fasta │ │ ├── human_GRCh38_no_alt_analysis_set.fasta.fai │ │ └── README.md │ ├── Singularity镜像目录 │ │ ├── README.md │ │ └── truvari-v4.2.2.sif │ └── 结构变异调用结果 │ ├── pbsv │ ├── sawfish │ └── sniffles └── README.md