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

Abstract

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. 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. GAVISUNK is available at https://github.com/pdishuck/GAVISUNK. Supplementary data are available at Bioinformatics online.