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EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends

BACKGROUND: The application of PacBio HiFi and ultra-long ONT reads have enabled huge progress in the contig-level assembly, but it is still challenging to assemble large contigs into chromosomes with available Hi-C scaffolding tools, which count Hi-C links between contigs using the whole or a large...

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Autores principales: Wang, Sen, Wang, Hengchao, Jiang, Fan, Wang, Anqi, Liu, Hangwei, Zhao, Hanbo, Yang, Boyuan, Xu, Dong, Zhang, Yan, Fan, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730666/
https://www.ncbi.nlm.nih.gov/pubmed/36482318
http://dx.doi.org/10.1186/s12859-022-05087-x
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author Wang, Sen
Wang, Hengchao
Jiang, Fan
Wang, Anqi
Liu, Hangwei
Zhao, Hanbo
Yang, Boyuan
Xu, Dong
Zhang, Yan
Fan, Wei
author_facet Wang, Sen
Wang, Hengchao
Jiang, Fan
Wang, Anqi
Liu, Hangwei
Zhao, Hanbo
Yang, Boyuan
Xu, Dong
Zhang, Yan
Fan, Wei
author_sort Wang, Sen
collection PubMed
description BACKGROUND: The application of PacBio HiFi and ultra-long ONT reads have enabled huge progress in the contig-level assembly, but it is still challenging to assemble large contigs into chromosomes with available Hi-C scaffolding tools, which count Hi-C links between contigs using the whole or a large part of contig regions. As the Hi-C links of two adjacent contigs concentrate only at the neighbor ends of the contigs, larger contig size will reduce the power to differentiate adjacent (signal) and non-adjacent (noise) contig linkages, leading to a higher rate of mis-assembly. RESULTS: We design and develop a novel Hi-C based scaffolding tool EndHiC, which is suitable to assemble large contigs into chromosomal-level scaffolds. The core idea behind EndHiC, which distinguishes it from other Hi-C scaffolding tools, is using Hi-C links only from the most effective regions of contig ends. By this way, the signal neighbor contig linkages and noise non-neighbor contig linkages are separated more clearly. Benefiting from the increased signal to noise ratio, the reciprocal best requirement, as well as the robustness evaluation, EndHiC achieves higher accuracy for scaffolding large contigs compared to existing tools. EndHiC has been successfully applied in the Hi-C scaffolding of simulated data from human, rice and Arabidopsis, and real data from human, great burdock, water spinach, chicory, endive, yacon, and Ipomoea cairica, suggesting that EndHiC can be applied to a broad range of plant and animal genomes. CONCLUSIONS: EndHiC is a novel Hi-C scaffolding tool, which is suitable for scaffolding of contig assemblies with contig N50 size near or over 10 Mb and N90 size near or over 1 Mb. EndHiC is efficient both in time and memory, and it is interface-friendly to the users. As more genome projects have been launched and the contig continuity constantly improved, we believe EndHiC has the potential to make a great contribution to the genomics field and liberate the scientists from labor-intensive manual curation works. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-05087-x.
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spelling pubmed-97306662022-12-09 EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends Wang, Sen Wang, Hengchao Jiang, Fan Wang, Anqi Liu, Hangwei Zhao, Hanbo Yang, Boyuan Xu, Dong Zhang, Yan Fan, Wei BMC Bioinformatics Software BACKGROUND: The application of PacBio HiFi and ultra-long ONT reads have enabled huge progress in the contig-level assembly, but it is still challenging to assemble large contigs into chromosomes with available Hi-C scaffolding tools, which count Hi-C links between contigs using the whole or a large part of contig regions. As the Hi-C links of two adjacent contigs concentrate only at the neighbor ends of the contigs, larger contig size will reduce the power to differentiate adjacent (signal) and non-adjacent (noise) contig linkages, leading to a higher rate of mis-assembly. RESULTS: We design and develop a novel Hi-C based scaffolding tool EndHiC, which is suitable to assemble large contigs into chromosomal-level scaffolds. The core idea behind EndHiC, which distinguishes it from other Hi-C scaffolding tools, is using Hi-C links only from the most effective regions of contig ends. By this way, the signal neighbor contig linkages and noise non-neighbor contig linkages are separated more clearly. Benefiting from the increased signal to noise ratio, the reciprocal best requirement, as well as the robustness evaluation, EndHiC achieves higher accuracy for scaffolding large contigs compared to existing tools. EndHiC has been successfully applied in the Hi-C scaffolding of simulated data from human, rice and Arabidopsis, and real data from human, great burdock, water spinach, chicory, endive, yacon, and Ipomoea cairica, suggesting that EndHiC can be applied to a broad range of plant and animal genomes. CONCLUSIONS: EndHiC is a novel Hi-C scaffolding tool, which is suitable for scaffolding of contig assemblies with contig N50 size near or over 10 Mb and N90 size near or over 1 Mb. EndHiC is efficient both in time and memory, and it is interface-friendly to the users. As more genome projects have been launched and the contig continuity constantly improved, we believe EndHiC has the potential to make a great contribution to the genomics field and liberate the scientists from labor-intensive manual curation works. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-05087-x. BioMed Central 2022-12-08 /pmc/articles/PMC9730666/ /pubmed/36482318 http://dx.doi.org/10.1186/s12859-022-05087-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Software
Wang, Sen
Wang, Hengchao
Jiang, Fan
Wang, Anqi
Liu, Hangwei
Zhao, Hanbo
Yang, Boyuan
Xu, Dong
Zhang, Yan
Fan, Wei
EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends
title EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends
title_full EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends
title_fullStr EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends
title_full_unstemmed EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends
title_short EndHiC: assemble large contigs into chromosome-level scaffolds using the Hi-C links from contig ends
title_sort endhic: assemble large contigs into chromosome-level scaffolds using the hi-c links from contig ends
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730666/
https://www.ncbi.nlm.nih.gov/pubmed/36482318
http://dx.doi.org/10.1186/s12859-022-05087-x
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