Published February 21, 2025
| Version 2.1.0
Dataset
Open
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
Note: The directory name has not been updated from previous versions.
hifi-wdl-resources-v2.0.0
├── 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
│ ├── hificnv
│ │ ├── cnv.excluded_regions.common_50.hg38.bed.gz
│ │ ├── cnv.excluded_regions.common_50.hg38.bed.gz.tbi
│ │ ├── expected_cn.hg38.XX.bed
│ │ ├── expected_cn.hg38.XY.bed
│ │ └── README.md
│ ├── human_GRCh38_no_alt_analysis_set.chr_lengths.txt
│ ├── human_GRCh38_no_alt_analysis_set.fasta
│ ├── human_GRCh38_no_alt_analysis_set.fasta.fai
│ ├── human_GRCh38_no_alt_analysis_set.pbsv_splits.json
│ ├── human_GRCh38_no_alt_analysis_set.trf.bed
│ ├── pharmcat
│ │ ├── pharmcat_positions_2.15.4.vcf.bgz
│ │ ├── pharmcat_positions_2.15.4.vcf.bgz.csi
│ │ └── README.md
│ ├── 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
│ ├── human_GRCh38_no_alt_analysis_set.trgt.adotto_repeats.hg38.bed
│ ├── human_GRCh38_no_alt_analysis_set.trgt.v0.3.4.bed
│ └── README.md
├── GRCh38.ref_map.v2p0p0.template.tsv
├── GRCh38.tertiary_map.v2p0p0.template.tsv
└── slivar
├── clinvar_gene_desc.20240624T165443.txt
├── lof_lookup.v2.1.1.txt
├── README
└── slivar-functions.v0.2.8.js
8 directories, 40 files
Files
Files
(9.5 GB)
Name | Size | Download all |
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md5:b0911ba5c5a3918f41da54783453c697
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9.5 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