Workflow for Comprehensive Detection and Prioritization of Variants with PacBio HiFi Readsbio

Опубликовано: 17 Май 2021
на канале: PacBio

626

Over the past few years, many bioinformatics tools have been developed to enable comprehensive variant detection from PacBio HiFi reads. This talk describes a flexible, modular workflow for variant detection and prioritization from HiFi whole-genome sequencing data, including open-source tools for quality control, alignment, small variant detection, and phasing, structural variant detection, genotyping of tandem repeats, and de novo assembly. This pipeline is available on GitHub as a Snakemake workflow and has been adapted into a Cromwell WDL workflow by Microsoft Genomics.

Learn more about PacBio at https://pacb.com/
Legal & Trademarks: Visit https://www.pacb.com/legal-and-tradem...