이아랑 (NHGRI / NIH) | 상위피인용논문 > 한빛사

한빛사논문, 상위피인용논문

조회119

NHGRI / NIH

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Genome Biol., 2020 Sep 14;21(1):245 | https://doi.org/10.1186/s13059-020-02134-9 Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Arang Rhie^1,*, Brian P Walenz ¹, Sergey Koren ¹, Adam M Phillippy ¹

¹Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

^*Corresponding author: correspondence to Arang Rhie

Abstract

Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations. By comparing k-mers in a de novo assembly to those found in unassembled high-accuracy reads, Merqury estimates base-level accuracy and completeness. For trios, Merqury can also evaluate haplotype-specific accuracy, completeness, phase block continuity, and switch errors. Multiple visualizations, such as k-mer spectrum plots, can be generated for evaluation. We demonstrate on both human and plant genomes that Merqury is a fast and robust method for assembly validation.

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