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De novo phasing resolves haplotype sequences in complex plant genomes

Genome phasing is a recently developed assembly method that separates heterozygous eukaryotic genomic regions and builds haplotype‐resolved assemblies. Because differences between haplotypes are ignored in most published de novo genomes, assemblies are available as consensus genomes consisting of ha...

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Detalles Bibliográficos
Autores principales: Guk, Ji‐Yoon, Jang, Min‐Jeong, Choi, Jin‐Wook, Lee, Yeon Mi, Kim, Seungill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9129073/
https://www.ncbi.nlm.nih.gov/pubmed/35332665
http://dx.doi.org/10.1111/pbi.13815
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author Guk, Ji‐Yoon
Jang, Min‐Jeong
Choi, Jin‐Wook
Lee, Yeon Mi
Kim, Seungill
author_facet Guk, Ji‐Yoon
Jang, Min‐Jeong
Choi, Jin‐Wook
Lee, Yeon Mi
Kim, Seungill
author_sort Guk, Ji‐Yoon
collection PubMed
description Genome phasing is a recently developed assembly method that separates heterozygous eukaryotic genomic regions and builds haplotype‐resolved assemblies. Because differences between haplotypes are ignored in most published de novo genomes, assemblies are available as consensus genomes consisting of haplotype mixtures, thus increasing the need for genome phasing. Here, we review the operating principles and characteristics of several freely available and widely used phasing tools (TrioCanu, FALCON‐Phase, and ALLHiC). An examination of downstream analyses using haplotype‐resolved genome assemblies in plants indicated significant differences among haplotypes regarding chromosomal rearrangements, sequence insertions, and expression of specific alleles that contribute to the acquisition of the biological characteristics of plant species. Finally, we suggest directions to solve addressing limitations of current genome‐phasing methods. This review provides insights into the current progress, limitations, and future directions of de novo genome phasing, which will enable researchers to easily access and utilize genome‐phasing in studies involving highly heterozygous complex plant genomes.
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spelling pubmed-91290732022-05-26 De novo phasing resolves haplotype sequences in complex plant genomes Guk, Ji‐Yoon Jang, Min‐Jeong Choi, Jin‐Wook Lee, Yeon Mi Kim, Seungill Plant Biotechnol J Review Article Genome phasing is a recently developed assembly method that separates heterozygous eukaryotic genomic regions and builds haplotype‐resolved assemblies. Because differences between haplotypes are ignored in most published de novo genomes, assemblies are available as consensus genomes consisting of haplotype mixtures, thus increasing the need for genome phasing. Here, we review the operating principles and characteristics of several freely available and widely used phasing tools (TrioCanu, FALCON‐Phase, and ALLHiC). An examination of downstream analyses using haplotype‐resolved genome assemblies in plants indicated significant differences among haplotypes regarding chromosomal rearrangements, sequence insertions, and expression of specific alleles that contribute to the acquisition of the biological characteristics of plant species. Finally, we suggest directions to solve addressing limitations of current genome‐phasing methods. This review provides insights into the current progress, limitations, and future directions of de novo genome phasing, which will enable researchers to easily access and utilize genome‐phasing in studies involving highly heterozygous complex plant genomes. John Wiley and Sons Inc. 2022-04-09 2022-06 /pmc/articles/PMC9129073/ /pubmed/35332665 http://dx.doi.org/10.1111/pbi.13815 Text en © 2022 The Authors. Plant Biotechnology Journal published by Society for Experimental Biology and The Association of Applied Biologists and John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Review Article
Guk, Ji‐Yoon
Jang, Min‐Jeong
Choi, Jin‐Wook
Lee, Yeon Mi
Kim, Seungill
De novo phasing resolves haplotype sequences in complex plant genomes
title De novo phasing resolves haplotype sequences in complex plant genomes
title_full De novo phasing resolves haplotype sequences in complex plant genomes
title_fullStr De novo phasing resolves haplotype sequences in complex plant genomes
title_full_unstemmed De novo phasing resolves haplotype sequences in complex plant genomes
title_short De novo phasing resolves haplotype sequences in complex plant genomes
title_sort de novo phasing resolves haplotype sequences in complex plant genomes
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9129073/
https://www.ncbi.nlm.nih.gov/pubmed/35332665
http://dx.doi.org/10.1111/pbi.13815
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