Cargando…
GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C
Chromosome-level haplotype-resolved genome assembly is an important resource in molecular biology. However, current de novo haplotype assemblers require parental data or reference genomes and often fail to provide chromosome-level results. We present GreenHill, a novel scaffolding and phasing tool t...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334647/ https://www.ncbi.nlm.nih.gov/pubmed/37434204 http://dx.doi.org/10.1186/s13059-023-03006-8 |
_version_ | 1785070903433887744 |
---|---|
author | Ouchi, Shun Kajitani, Rei Itoh, Takehiko |
author_facet | Ouchi, Shun Kajitani, Rei Itoh, Takehiko |
author_sort | Ouchi, Shun |
collection | PubMed |
description | Chromosome-level haplotype-resolved genome assembly is an important resource in molecular biology. However, current de novo haplotype assemblers require parental data or reference genomes and often fail to provide chromosome-level results. We present GreenHill, a novel scaffolding and phasing tool that considers various assemblers’ contigs as input to reconstruct chromosome-level haplotypes using Hi-C without parental or reference data. Its unique functions include new error correction based on Hi-C contacts and the simultaneous use of Hi-C and long reads. Benchmarks reveal that GreenHill outperforms other approaches in contiguity and phasing accuracy, and the majority of chromosome arms are entirely phased. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-023-03006-8. |
format | Online Article Text |
id | pubmed-10334647 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-103346472023-07-12 GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C Ouchi, Shun Kajitani, Rei Itoh, Takehiko Genome Biol Method Chromosome-level haplotype-resolved genome assembly is an important resource in molecular biology. However, current de novo haplotype assemblers require parental data or reference genomes and often fail to provide chromosome-level results. We present GreenHill, a novel scaffolding and phasing tool that considers various assemblers’ contigs as input to reconstruct chromosome-level haplotypes using Hi-C without parental or reference data. Its unique functions include new error correction based on Hi-C contacts and the simultaneous use of Hi-C and long reads. Benchmarks reveal that GreenHill outperforms other approaches in contiguity and phasing accuracy, and the majority of chromosome arms are entirely phased. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-023-03006-8. BioMed Central 2023-07-11 /pmc/articles/PMC10334647/ /pubmed/37434204 http://dx.doi.org/10.1186/s13059-023-03006-8 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This 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 | Method Ouchi, Shun Kajitani, Rei Itoh, Takehiko GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C |
title | GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C |
title_full | GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C |
title_fullStr | GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C |
title_full_unstemmed | GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C |
title_short | GreenHill: a de novo chromosome-level scaffolding and phasing tool using Hi-C |
title_sort | greenhill: a de novo chromosome-level scaffolding and phasing tool using hi-c |
topic | Method |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334647/ https://www.ncbi.nlm.nih.gov/pubmed/37434204 http://dx.doi.org/10.1186/s13059-023-03006-8 |
work_keys_str_mv | AT ouchishun greenhilladenovochromosomelevelscaffoldingandphasingtoolusinghic AT kajitanirei greenhilladenovochromosomelevelscaffoldingandphasingtoolusinghic AT itohtakehiko greenhilladenovochromosomelevelscaffoldingandphasingtoolusinghic |