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gcaPDA: a haplotype-resolved diploid assembler

BACKGROUND: Generating chromosome-scale haplotype resolved assembly is important for functional studies. However, current de novo assemblers are either haploid assemblers that discard allelic information, or diploid assemblers that can only tackle genomes of low complexity. RESULTS: Here, Using robu...

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Autores principales: Xie, Min, Yang, Linfeng, Jiang, Chenglin, Wu, Shenshen, Luo, Cheng, Yang, Xin, He, Lijuan, Chen, Shixuan, Deng, Tianquan, Ye, Mingzhi, Yan, Jianbing, Yang, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842951/
https://www.ncbi.nlm.nih.gov/pubmed/35164674
http://dx.doi.org/10.1186/s12859-022-04591-4
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author Xie, Min
Yang, Linfeng
Jiang, Chenglin
Wu, Shenshen
Luo, Cheng
Yang, Xin
He, Lijuan
Chen, Shixuan
Deng, Tianquan
Ye, Mingzhi
Yan, Jianbing
Yang, Ning
author_facet Xie, Min
Yang, Linfeng
Jiang, Chenglin
Wu, Shenshen
Luo, Cheng
Yang, Xin
He, Lijuan
Chen, Shixuan
Deng, Tianquan
Ye, Mingzhi
Yan, Jianbing
Yang, Ning
author_sort Xie, Min
collection PubMed
description BACKGROUND: Generating chromosome-scale haplotype resolved assembly is important for functional studies. However, current de novo assemblers are either haploid assemblers that discard allelic information, or diploid assemblers that can only tackle genomes of low complexity. RESULTS: Here, Using robust programs, we build a diploid genome assembly pipeline called gcaPDA (gamete cells assisted Phased Diploid Assembler), which exploits haploid gamete cells to assist in resolving haplotypes. We demonstrate the effectiveness of gcaPDA based on simulated HiFi reads of maize genome which is highly heterozygous and repetitive, and real data from rice. CONCLUSIONS: With applicability of coping with complex genomes and fewer restrictions on application than most of diploid assemblers, gcaPDA is likely to find broad applications in studies of eukaryotic genomes. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04591-4.
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spelling pubmed-88429512022-02-16 gcaPDA: a haplotype-resolved diploid assembler Xie, Min Yang, Linfeng Jiang, Chenglin Wu, Shenshen Luo, Cheng Yang, Xin He, Lijuan Chen, Shixuan Deng, Tianquan Ye, Mingzhi Yan, Jianbing Yang, Ning BMC Bioinformatics Software BACKGROUND: Generating chromosome-scale haplotype resolved assembly is important for functional studies. However, current de novo assemblers are either haploid assemblers that discard allelic information, or diploid assemblers that can only tackle genomes of low complexity. RESULTS: Here, Using robust programs, we build a diploid genome assembly pipeline called gcaPDA (gamete cells assisted Phased Diploid Assembler), which exploits haploid gamete cells to assist in resolving haplotypes. We demonstrate the effectiveness of gcaPDA based on simulated HiFi reads of maize genome which is highly heterozygous and repetitive, and real data from rice. CONCLUSIONS: With applicability of coping with complex genomes and fewer restrictions on application than most of diploid assemblers, gcaPDA is likely to find broad applications in studies of eukaryotic genomes. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-022-04591-4. BioMed Central 2022-02-14 /pmc/articles/PMC8842951/ /pubmed/35164674 http://dx.doi.org/10.1186/s12859-022-04591-4 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
Xie, Min
Yang, Linfeng
Jiang, Chenglin
Wu, Shenshen
Luo, Cheng
Yang, Xin
He, Lijuan
Chen, Shixuan
Deng, Tianquan
Ye, Mingzhi
Yan, Jianbing
Yang, Ning
gcaPDA: a haplotype-resolved diploid assembler
title gcaPDA: a haplotype-resolved diploid assembler
title_full gcaPDA: a haplotype-resolved diploid assembler
title_fullStr gcaPDA: a haplotype-resolved diploid assembler
title_full_unstemmed gcaPDA: a haplotype-resolved diploid assembler
title_short gcaPDA: a haplotype-resolved diploid assembler
title_sort gcapda: a haplotype-resolved diploid assembler
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842951/
https://www.ncbi.nlm.nih.gov/pubmed/35164674
http://dx.doi.org/10.1186/s12859-022-04591-4
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