Uloženo v:
| Hlavní autor: | |
|---|---|
| Médium: | Recurso digital |
| Jazyk: | |
| Vydáno: |
Zenodo
2025
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| On-line přístup: | https://doi.org/10.5281/zenodo.15082875 |
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- <h1>Changelog</h1> <p>All notable changes to this project will be documented in this file.</p> <h2>[1.0.0] - 2024-11-24</h2> <h3>Added</h3> <ul> <li>Initial release of <code>nf-varcall</code>, a Nextflow-based pipeline for variant calling and annotation using PacBio Hi-Fi sequencing reads.</li> <li>Modules: <code>data_qc</code>, <code>pbmm2</code>, <code>deepvariant</code>, <code>filter_variants</code>, <code>merge_vcf</code>, <code>vep</code>, <code>alignment_summary</code>, <code>report</code>.</li> <li>Configuration: Support for Docker containers to ensure reproducibility.</li> <li><code>README.md</code> for usage instructions, input/output specifications, and configuration options.</li> <li><code>Makefile</code> to setup the VEP cache (<code>homo_sapiens_merged_vep_113_GRCh38</code>) and example data.</li> </ul>