Published January 11, 2025 | Version v2

Pipeline/Script: Analysis of Tandem Repeats and Other Genetic and Genomic Variants in Human Genome Assemblies

Authors/Creators

  • 1. ROR icon National Cancer Institute

Description

We've released a script to streamline the use of Human Pangenome Reference Consortium (HPRC) genome assembly data. Designed for samples with long-read sequencing data, the script allows filtering of specific regions in accordance with the HPRC Data Use Protocol. Access the open data via HPRC buckets or the HPRC Genome Sequencing BioProject (PRJNA701308), and integrate it seamlessly into your genomic workflows.

Files

oflorez/HumanGenomeAssemblies-genome.zip

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Additional details

Related works

Is original form of
Workflow: https://github.com/oflorez/HumanGenomeAssemblies (URL)
Is published in
Preprint: 10.1101/2024.11.04.24316722 (DOI)

Dates

Available
2025-01-11

Software

Repository URL
https://github.com/oflorez/HumanGenomeAssemblies
Programming language
Shell