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Published February 21, 2025 | Version 2.1.0
Dataset Open

Reference data bundle for PacificBiosciences/HiFi-human-WGS-WDL

  • 1. Pacific Biosciences

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)

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md5:b0911ba5c5a3918f41da54783453c697
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Additional details

Software

References

  • 10.1038/s41586-020-2287-8
  • 10.1038/s41586-020-2308-7
  • 10.5281/zenodo.11511513