Published January 29, 2025 | Version v1.0.0

Demo data for HapSMA

  • 1. ROR icon University Medical Center Utrecht

Description

This Zenodo contains input files for the demo data analsis for HapSMA workflow (https://github.com/UMCUGenetics/HapSMA/)
The roofolder contains al data files to start run_demo.sh as described in de HapSMA documentation.
Folder results contain output BAM and VCF files, and can be used for comparisons.

This demo dataset contains ONT sequencing data from sample HG02071 that was generated as part of the Human PanGenomics Project and downloaded from https://registry.opendata.aws/hpgp-data (Liao et al. 2023, Nature, https://doi.org/10.1038/s41586-023-05896-x ).
BAM file has been filtered for region chr5:69000000-72000000 to reduce filesize.

Files

Files (422.3 MB)

Name Size
md5:32d34a0c0211898a81b978a18f55acb2
422.3 MB Download

Additional details

Software

Repository URL
https://github.com/UMCUGenetics/HapSMA/
Programming language
Nextflow