holtgrewe / pb-human-wgs-workflow-snakemake

Workflow for the comprehensive detection and prioritization of variants in human genomes with PacBio HiFi reads

PacBio Human WGS Workflow - snakemake implementation

This repo contains a data analysis pipeline to comprehensively detect and prioritize variants in human genomes using PacBio HiFi reads. It consists of three Snakemake workflows designed to run sequentially, with PacBio HiFi BAMs or FASTQs as the primary input.

Documentation for the PacBio Human WGS Workflow (snakemake implementation) is available here.

Contributors

• William Rowell (@williamrowell)
• Aaron Wenger (@amwenger)
• Juniper Lake (@juniper-lake)