Reference data bundle for PacificBiosciences/HiFi-human-WGS-WDL
Description
Static input files to support alignment, variant calling, filtering, and annotation for human HiFi WGS using the GRCh38 reference.
https://github.com/PacificBiosciences/HiFi-human-WGS-WDL
hifi-wdl-resources-v3.0.0├── GRCh38│ ├── annotation│ │ ├── GRCh38.oddRegions.bed.gz│ │ ├── GRCh38.oddRegions.bed.gz.tbi│ │ ├── GRCh38.repeats.bed.gz│ │ ├── GRCh38.repeats.bed.gz.tbi│ │ ├── GRCh38.segdups.bed.gz│ │ ├── GRCh38.segdups.bed.gz.tbi│ │ └── README.md│ ├── ensembl.GRCh38.101.reformatted.gff3.gz│ ├── human_GRCh38_no_alt_analysis_set.fasta│ ├── human_GRCh38_no_alt_analysis_set.fasta.fai│ ├── pharmcat│ │ ├── pharmcat_positions_2.15.4.vcf.bgz│ │ ├── pharmcat_positions_2.15.4.vcf.bgz.csi│ │ └── README.md│ ├── README│ ├── sawfish│ │ ├── annotation_and_common_cnv.hg38.bed.gz│ │ ├── annotation_and_common_cnv.hg38.bed.gz.tbi│ │ ├── expected_cn.hg38.XX.bed│ │ ├── expected_cn.hg38.XY.bed│ │ └── README│ ├── slivar_gnotate│ │ ├── buildGnomad_v4│ │ ├── CoLoRSdb.GRCh38.v1.2.0.deepvariant.glnexus.zip│ │ ├── gnomad.hg38.v4.1.custom.v1.zip│ │ └── README.md│ ├── sv_pop_vcfs│ │ ├── CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz│ │ ├── CoLoRSdb.GRCh38.v1.2.0.pbsv.jasmine.vcf.gz.tbi│ │ ├── gnomad.v4.1.sv.sites.pass.vcf.gz│ │ ├── gnomad.v4.1.sv.sites.pass.vcf.gz.tbi│ │ └── README.md│ └── trgt│ ├── adotto_strchive_20250626.hg38.bed.gz│ └── README.md├── GRCh38.ref_map.v3p0p0.template.tsv├── GRCh38.tertiary_map.v3p0p0.template.tsv└── slivar ├── clinvar_gene_desc.20250618T144412.txt ├── get_lof_gnomadv4.sh ├── lof.gnomadv4p1.lookup ├── README ├── README.lof.md └── slivar-functions.v0.2.8.js
8 directories, 38 files
Files
Files
(9.4 GB)
| Name | Size | Download all |
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md5:ac8249c38eee7aa9e2c48d4cc920e75b
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9.4 GB | Download |
Additional details
Software
- Repository URL
- https://github.com/PacificBiosciences/HiFi-human-WGS-WDL
- Development Status
- Active
References
- 10.1038/s41586-020-2287-8
- 10.1038/s41586-020-2308-7
- 10.5281/zenodo.11511513