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GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads

MOTIVATION: Highly contiguous de novo phased diploid genome assemblies are now feasible for large numbers of species and individuals. Methods are needed to validate assembly accuracy and detect misassemblies with orthologous sequencing data to allow for confident downstream analyses. RESULTS: We dev...

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Detalles Bibliográficos
Autores principales: Dishuck, Philip C, Rozanski, Allison N, Logsdon, Glennis A, Porubsky, David, Eichler, Evan E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805576/
https://www.ncbi.nlm.nih.gov/pubmed/36321867
http://dx.doi.org/10.1093/bioinformatics/btac714
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author Dishuck, Philip C
Rozanski, Allison N
Logsdon, Glennis A
Porubsky, David
Eichler, Evan E
author_facet Dishuck, Philip C
Rozanski, Allison N
Logsdon, Glennis A
Porubsky, David
Eichler, Evan E
author_sort Dishuck, Philip C
collection PubMed
description MOTIVATION: Highly contiguous de novo phased diploid genome assemblies are now feasible for large numbers of species and individuals. Methods are needed to validate assembly accuracy and detect misassemblies with orthologous sequencing data to allow for confident downstream analyses. RESULTS: We developed GAVISUNK, an open-source pipeline that detects misassemblies and produces a set of reliable regions genome-wide by assessing concordance of distances between unique k-mers in Pacific Biosciences high-fidelity assemblies and raw Oxford Nanopore Technologies reads. AVAILABILITY AND IMPLEMENTATION: GAVISUNK is available at https://github.com/pdishuck/GAVISUNK. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-98055762023-01-03 GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads Dishuck, Philip C Rozanski, Allison N Logsdon, Glennis A Porubsky, David Eichler, Evan E Bioinformatics Applications Note MOTIVATION: Highly contiguous de novo phased diploid genome assemblies are now feasible for large numbers of species and individuals. Methods are needed to validate assembly accuracy and detect misassemblies with orthologous sequencing data to allow for confident downstream analyses. RESULTS: We developed GAVISUNK, an open-source pipeline that detects misassemblies and produces a set of reliable regions genome-wide by assessing concordance of distances between unique k-mers in Pacific Biosciences high-fidelity assemblies and raw Oxford Nanopore Technologies reads. AVAILABILITY AND IMPLEMENTATION: GAVISUNK is available at https://github.com/pdishuck/GAVISUNK. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2022-11-02 /pmc/articles/PMC9805576/ /pubmed/36321867 http://dx.doi.org/10.1093/bioinformatics/btac714 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Dishuck, Philip C
Rozanski, Allison N
Logsdon, Glennis A
Porubsky, David
Eichler, Evan E
GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
title GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
title_full GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
title_fullStr GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
title_full_unstemmed GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
title_short GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
title_sort gavisunk: genome assembly validation via inter-sunk distances in oxford nanopore reads
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805576/
https://www.ncbi.nlm.nih.gov/pubmed/36321867
http://dx.doi.org/10.1093/bioinformatics/btac714
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