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

Authors :
Philip C Dishuck
Allison N Rozanski
Glennis A Logsdon
David Porubsky
Evan E Eichler
Source :
Bioinformatics (Oxford, England). 39(1)
Publication Year :
2022

Abstract

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.

Details

ISSN :
13674811
Volume :
39
Issue :
1
Database :
OpenAIRE
Journal :
Bioinformatics (Oxford, England)
Accession number :
edsair.doi.dedup.....59b933dfbcdbc573e89414e3688d4185