Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools deteriorates in highly repetitive regio...

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Autores principales: Bzikadze, Andrey V., Mikheenko, Alla, Pevzner, Pavel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808623/
https://www.ncbi.nlm.nih.gov/pubmed/36379716
http://dx.doi.org/10.1101/gr.276871.122
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author Bzikadze, Andrey V.
Mikheenko, Alla
Pevzner, Pavel A.
author_facet Bzikadze, Andrey V.
Mikheenko, Alla
Pevzner, Pavel A.
author_sort Bzikadze, Andrey V.
collection PubMed
description Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools deteriorates in highly repetitive regions, there is a need to develop accurate, error-exposing (detecting potential assembly errors), and diploid-aware (distinguishing different haplotypes) tools for read mapping in complete assemblies. We describe the first accurate, error-exposing, and partially diploid-aware VerityMap tool for long-read mapping to complete assemblies.
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spelling pubmed-98086232023-05-01 Fast and accurate mapping of long reads to complete genome assemblies with VerityMap Bzikadze, Andrey V. Mikheenko, Alla Pevzner, Pavel A. Genome Res Method Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools deteriorates in highly repetitive regions, there is a need to develop accurate, error-exposing (detecting potential assembly errors), and diploid-aware (distinguishing different haplotypes) tools for read mapping in complete assemblies. We describe the first accurate, error-exposing, and partially diploid-aware VerityMap tool for long-read mapping to complete assemblies. Cold Spring Harbor Laboratory Press 2022 /pmc/articles/PMC9808623/ /pubmed/36379716 http://dx.doi.org/10.1101/gr.276871.122 Text en © 2022 Bzikadze et al.; Published by Cold Spring Harbor Laboratory Press https://creativecommons.org/licenses/by-nc/4.0/This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see https://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Method
Bzikadze, Andrey V.
Mikheenko, Alla
Pevzner, Pavel A.
Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
title Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
title_full Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
title_fullStr Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
title_full_unstemmed Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
title_short Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
title_sort fast and accurate mapping of long reads to complete genome assemblies with veritymap
topic Method
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808623/
https://www.ncbi.nlm.nih.gov/pubmed/36379716
http://dx.doi.org/10.1101/gr.276871.122
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