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Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres

Nanopore long-read sequencing is an emerging approach for studying genomes, including long repetitive elements like telomeres. Here, we report extensive basecalling induced errors at telomere repeats across nanopore datasets, sequencing platforms, basecallers, and basecalling models. We find that te...

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Autores principales: Tan, Kar-Tong, Slevin, Michael K., Meyerson, Matthew, Li, Heng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9414165/
https://www.ncbi.nlm.nih.gov/pubmed/36028900
http://dx.doi.org/10.1186/s13059-022-02751-6
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author Tan, Kar-Tong
Slevin, Michael K.
Meyerson, Matthew
Li, Heng
author_facet Tan, Kar-Tong
Slevin, Michael K.
Meyerson, Matthew
Li, Heng
author_sort Tan, Kar-Tong
collection PubMed
description Nanopore long-read sequencing is an emerging approach for studying genomes, including long repetitive elements like telomeres. Here, we report extensive basecalling induced errors at telomere repeats across nanopore datasets, sequencing platforms, basecallers, and basecalling models. We find that telomeres in many organisms are frequently miscalled. We demonstrate that tuning of nanopore basecalling models leads to improved recovery and analysis of telomeric regions, with minimal negative impact on other genomic regions. We highlight the importance of verifying nanopore basecalls in long, repetitive, and poorly defined regions, and showcase how artefacts can be resolved by improvements in nanopore basecalling models. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-022-02751-6.
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spelling pubmed-94141652022-08-27 Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres Tan, Kar-Tong Slevin, Michael K. Meyerson, Matthew Li, Heng Genome Biol Short Report Nanopore long-read sequencing is an emerging approach for studying genomes, including long repetitive elements like telomeres. Here, we report extensive basecalling induced errors at telomere repeats across nanopore datasets, sequencing platforms, basecallers, and basecalling models. We find that telomeres in many organisms are frequently miscalled. We demonstrate that tuning of nanopore basecalling models leads to improved recovery and analysis of telomeric regions, with minimal negative impact on other genomic regions. We highlight the importance of verifying nanopore basecalls in long, repetitive, and poorly defined regions, and showcase how artefacts can be resolved by improvements in nanopore basecalling models. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-022-02751-6. BioMed Central 2022-08-26 /pmc/articles/PMC9414165/ /pubmed/36028900 http://dx.doi.org/10.1186/s13059-022-02751-6 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 Short Report
Tan, Kar-Tong
Slevin, Michael K.
Meyerson, Matthew
Li, Heng
Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
title Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
title_full Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
title_fullStr Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
title_full_unstemmed Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
title_short Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
title_sort identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9414165/
https://www.ncbi.nlm.nih.gov/pubmed/36028900
http://dx.doi.org/10.1186/s13059-022-02751-6
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