Unknown

Dataset Information

0

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies.


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.

SUBMITTER: Rhie A 

PROVIDER: S-EPMC7488777 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies.

Rhie Arang A   Walenz Brian P BP   Koren Sergey S   Phillippy Adam M AM  

Genome biology 20200914 1


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 continui  ...[more]

Similar Datasets

| S-EPMC4971766 | biostudies-other
| S-EPMC4898645 | biostudies-literature
| S-EPMC7144090 | biostudies-literature
| S-EPMC3624806 | biostudies-literature
| S-EPMC7379178 | biostudies-literature
| S-EPMC7402383 | biostudies-literature
| S-EPMC7053122 | biostudies-literature
| S-EPMC10763045 | biostudies-literature
| S-EPMC5919747 | biostudies-literature
| S-EPMC8081726 | biostudies-literature