Cargando…

Evaluation of haplotype-aware long-read error correction with hifieval

SUMMARY: The PacBio High-Fidelity (HiFi) sequencing technology produces long reads of [Formula: see text] 99% in accuracy. It has enabled the development of a new generation of de novo sequence assemblers, which all have sequencing error correction (EC) as the first step. As HiFi is a new data type,...

Descripción completa

Detalles Bibliográficos
Autores principales: Guo, Yujie, Feng, Xiaowen, Li, Heng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10612404/
https://www.ncbi.nlm.nih.gov/pubmed/37851384
http://dx.doi.org/10.1093/bioinformatics/btad631
_version_ 1785128697016090624
author Guo, Yujie
Feng, Xiaowen
Li, Heng
author_facet Guo, Yujie
Feng, Xiaowen
Li, Heng
author_sort Guo, Yujie
collection PubMed
description SUMMARY: The PacBio High-Fidelity (HiFi) sequencing technology produces long reads of [Formula: see text] 99% in accuracy. It has enabled the development of a new generation of de novo sequence assemblers, which all have sequencing error correction (EC) as the first step. As HiFi is a new data type, this critical step has not been evaluated before. Here, we introduced hifieval, a new command-line tool for measuring over- and under-corrections produced by EC algorithms. We assessed the accuracy of the EC components of existing HiFi assemblers on the CHM13 and the HG002 datasets and further investigated the performance of EC methods in challenging regions such as homopolymer regions, centromeric regions, and segmental duplications. Hifieval will help HiFi assemblers to improve EC and assembly quality in the long run. AVAILABILITY AND IMPLEMENTATION: The source code is available at https://github.com/magspho/hifieval.
format Online
Article
Text
id pubmed-10612404
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-106124042023-10-29 Evaluation of haplotype-aware long-read error correction with hifieval Guo, Yujie Feng, Xiaowen Li, Heng Bioinformatics Applications Note SUMMARY: The PacBio High-Fidelity (HiFi) sequencing technology produces long reads of [Formula: see text] 99% in accuracy. It has enabled the development of a new generation of de novo sequence assemblers, which all have sequencing error correction (EC) as the first step. As HiFi is a new data type, this critical step has not been evaluated before. Here, we introduced hifieval, a new command-line tool for measuring over- and under-corrections produced by EC algorithms. We assessed the accuracy of the EC components of existing HiFi assemblers on the CHM13 and the HG002 datasets and further investigated the performance of EC methods in challenging regions such as homopolymer regions, centromeric regions, and segmental duplications. Hifieval will help HiFi assemblers to improve EC and assembly quality in the long run. AVAILABILITY AND IMPLEMENTATION: The source code is available at https://github.com/magspho/hifieval. Oxford University Press 2023-10-18 /pmc/articles/PMC10612404/ /pubmed/37851384 http://dx.doi.org/10.1093/bioinformatics/btad631 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Guo, Yujie
Feng, Xiaowen
Li, Heng
Evaluation of haplotype-aware long-read error correction with hifieval
title Evaluation of haplotype-aware long-read error correction with hifieval
title_full Evaluation of haplotype-aware long-read error correction with hifieval
title_fullStr Evaluation of haplotype-aware long-read error correction with hifieval
title_full_unstemmed Evaluation of haplotype-aware long-read error correction with hifieval
title_short Evaluation of haplotype-aware long-read error correction with hifieval
title_sort evaluation of haplotype-aware long-read error correction with hifieval
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10612404/
https://www.ncbi.nlm.nih.gov/pubmed/37851384
http://dx.doi.org/10.1093/bioinformatics/btad631
work_keys_str_mv AT guoyujie evaluationofhaplotypeawarelongreaderrorcorrectionwithhifieval
AT fengxiaowen evaluationofhaplotypeawarelongreaderrorcorrectionwithhifieval
AT liheng evaluationofhaplotypeawarelongreaderrorcorrectionwithhifieval