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Sawfish Bioinformatics App Note SV VCFs and assessment results

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NIAID Data Ecosystem2026-05-02 收录
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https://zenodo.org/record/14898461
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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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2025-04-10
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