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Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
by
Walenz, Brian P.
, Phillippy, Adam M.
, Koren, Sergey
, Rhie, Arang
in
Accuracy
/ Animal Genetics and Genomics
/ Arabidopsis
/ Assembly validation
/ Benchmarking
/ Bioinformatics
/ Biomedical and Life Sciences
/ Evolutionary Biology
/ genome
/ Genome assembly
/ Genome, Human
/ Genome, Plant
/ Genomes
/ Genomics - methods
/ Haplotype phasing
/ Haplotypes
/ Human Genetics
/ Humans
/ K-mers
/ Life Sciences
/ Method
/ Microbial Genetics and Genomics
/ Plant Genetics and Genomics
/ planting
/ Software
/ Trio binning
2020
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Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
by
Walenz, Brian P.
, Phillippy, Adam M.
, Koren, Sergey
, Rhie, Arang
in
Accuracy
/ Animal Genetics and Genomics
/ Arabidopsis
/ Assembly validation
/ Benchmarking
/ Bioinformatics
/ Biomedical and Life Sciences
/ Evolutionary Biology
/ genome
/ Genome assembly
/ Genome, Human
/ Genome, Plant
/ Genomes
/ Genomics - methods
/ Haplotype phasing
/ Haplotypes
/ Human Genetics
/ Humans
/ K-mers
/ Life Sciences
/ Method
/ Microbial Genetics and Genomics
/ Plant Genetics and Genomics
/ planting
/ Software
/ Trio binning
2020
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Do you wish to request the book?
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
by
Walenz, Brian P.
, Phillippy, Adam M.
, Koren, Sergey
, Rhie, Arang
in
Accuracy
/ Animal Genetics and Genomics
/ Arabidopsis
/ Assembly validation
/ Benchmarking
/ Bioinformatics
/ Biomedical and Life Sciences
/ Evolutionary Biology
/ genome
/ Genome assembly
/ Genome, Human
/ Genome, Plant
/ Genomes
/ Genomics - methods
/ Haplotype phasing
/ Haplotypes
/ Human Genetics
/ Humans
/ K-mers
/ Life Sciences
/ Method
/ Microbial Genetics and Genomics
/ Plant Genetics and Genomics
/ planting
/ Software
/ Trio binning
2020
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Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
Journal Article
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
2020
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Overview
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.
Publisher
BioMed Central,Springer Nature B.V,BMC
Subject
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