遇见数据集

Sawfish Bioinformatics App Note SV VCFs and assessment results

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Zenodo2025-04-10 更新2026-05-26 收录
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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

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Zenodo
创建时间:
2025-02-20
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