MaGuS: a tool for quality assessment and scaffolding of genome assemblies with Whole Genome Profiling™ Data

Scaffolding is an essential step in the genome assembly process. Current methods based on large fragment paired-end reads or long reads allow an increase in contiguity but often lack consistency in repetitive regions, resulting in fragmented assemblies. Here, we describe a novel tool to link assembl...

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Veröffentlicht in:BMC bioinformatics 2016-03, Vol.17 (1), p.115-115, Article 115
Hauptverfasser: Madoui, Mohammed-Amin, Dossat, Carole, d'Agata, Léo, van Oeveren, Jan, van der Vossen, Edwin, Aury, Jean-Marc
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container_start_page 115
container_title BMC bioinformatics
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creator Madoui, Mohammed-Amin
Dossat, Carole
d'Agata, Léo
van Oeveren, Jan
van der Vossen, Edwin
Aury, Jean-Marc
description Scaffolding is an essential step in the genome assembly process. Current methods based on large fragment paired-end reads or long reads allow an increase in contiguity but often lack consistency in repetitive regions, resulting in fragmented assemblies. Here, we describe a novel tool to link assemblies to a genome map to aid complex genome reconstruction by detecting assembly errors and allowing scaffold ordering and anchoring. We present MaGuS (map-guided scaffolding), a modular tool that uses a draft genome assembly, a Whole Genome Profiling™ (WGP) map, and high-throughput paired-end sequencing data to estimate the quality and to enhance the contiguity of an assembly. We generated several assemblies of the Arabidopsis genome using different scaffolding programs and applied MaGuS to select the best assembly using quality metrics. Then, we used MaGuS to perform map-guided scaffolding to increase contiguity by creating new scaffold links in low-covered and highly repetitive regions where other commonly used scaffolding methods lack consistency. MaGuS is a powerful reference-free evaluator of assembly quality and a WGP map-guided scaffolder that is freely available at https://github.com/institut-de-genomique/MaGuS. Its use can be extended to other high-throughput sequencing data (e.g., long-read data) and also to other map data (e.g., genetic maps) to improve the quality and the contiguity of large and complex genome assemblies.
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subjects Arabidopsis - genetics
Biochemistry, Molecular Biology
Chromosomes, Artificial, Bacterial
Chromosomes, Plant - genetics
Contig Mapping
Genetics
Genome, Plant
Genomics
High-Throughput Nucleotide Sequencing - methods
Life Sciences
Methodology
Physical Chromosome Mapping
Plants genetics
Quantitative Methods
Repetitive Sequences, Nucleic Acid
Sequence Alignment
Sequence Analysis, DNA - methods
title MaGuS: a tool for quality assessment and scaffolding of genome assemblies with Whole Genome Profiling™ Data
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