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Related Concept Videos

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

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polishCLR: A Nextflow Workflow for Polishing PacBio CLR Genome Assemblies.

Jennifer Chang1,2,3, Amanda R Stahlke4, Sivanandan Chudalayandi3

  • 1USDA, Agricultural Research Service, Jamie Whitten Delta States Research Center, Genomics and Bioinformatics Research Unit, Stoneville, Mississippi.

Genome Biology and Evolution
|February 15, 2023
PubMed
Summary

A new workflow, polishCLR, improves genome assembly quality by correcting errors in long-read sequencing data. This tool enhances the accuracy of chromosome-level contigs, making genome assembly more reliable.

Keywords:
NextflowQVassemblygenomepolishpolishCLR

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Long-read sequencing technologies, like Pacific Biosciences (PacBio) continuous long reads (CLR), enable highly contiguous genome assemblies.
  • However, CLR data often contains a high error rate, necessitating a polishing step for accurate genome assembly.
  • Existing best practices for polishing non-model de novo genome assemblies require a standardized, reproducible workflow for broader accessibility.

Purpose of the Study:

  • To develop and present polishCLR, a reproducible Nextflow workflow for polishing genome assemblies generated from CLR data.
  • To implement established best practices for error correction in long-read genome assemblies.
  • To provide a containerized and publicly available tool for the scientific community.

Main Methods:

  • Developed polishCLR, a Nextflow workflow implementing best practices for CLR data polishing.
  • Integrated functionalities for handling suboptimal input data and re-entry points for key processes.
  • Included steps for duplicate haplotype identification (purge_dups), optional scaffolding, and multiple rounds of polishing and evaluation using Arrow and FreeBayes.

Main Results:

  • PolishCLR offers a reproducible workflow for correcting errors in CLR-based genome assemblies.
  • The workflow supports various input options and includes re-entry points for flexibility.
  • It is containerized and publicly available, facilitating its use in high-performance computing environments.

Conclusions:

  • PolishCLR provides a robust and accessible solution for polishing error-prone long-read genome assemblies.
  • This workflow enhances the contiguity and accuracy of chromosome-level assemblies.
  • It empowers researchers to improve existing genome assemblies derived from CLR data.