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As a step towards simplifying and reducing the cost of haplotype resolved assembly, we describe new methods for accurately phasing nanopore data with the Shasta genome assembler and a modular tool for extending phasing to the chromosome scale called GFAse. We test using new variants of Oxford Nanopore Technologies' (ONT) PromethION sequencing, including those using proximity ligation and show that newer, higher accuracy ONT reads substantially improve assembly quality.
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http://dx.doi.org/10.1101/2023.02.21.529152 | DOI Listing |
Plant Genome
September 2025
Molecular Plant Breeding, Institute of Agricultural Sciences, ETH Zurich, Zurich, Switzerland.
Italian ryegrass (Lolium multiflorum Lam.) is an important forage grass, providing a major source of feed for ruminants in temperate regions. Due to its highly heterozygous and repeat-rich genome, high-quality chromosome-level genome assemblies are scarce for Italian ryegrass.
View Article and Find Full Text PDFGenome Res
August 2025
University of Oslo, Akershus University Hospital;
Genetic diversity within the human immunoglobulin heavy chain (IGH) locus influences the expressed antibody repertoire and susceptibility to infectious and autoimmune diseases. However, repetitive sequences and complex structural variation pose significant challenges for large-scale characterization. Here, we introduce a method that combines Oxford Nanopore Technologies ultra-long sequencing and adaptive sampling with a bioinformatic pipeline to produce haplotype-resolved, annotated IGH assemblies.
View Article and Find Full Text PDFMethods Mol Biol
August 2025
Universität zu Köln, Cologne, Germany.
The field of genome assembly merely exists as long as sequencers are not able to yield chromosome-level error-less sequencing reads for all species. It consists in reconstituting the original genome sequence from sequencing reads, with a final number of fragments matching the expected number of chromosomes. This process has been facilitated by the availability of longer and more accurate reads.
View Article and Find Full Text PDFBioinformatics
August 2025
School of Computer Science and Engineering, Central South University, Changsha, 410083, China.
Motivation: Nanopore sequencing data offer longer reads compared to other technologies, which is beneficial for phasing and genome assembly. INDELs provide valuable haplotype information and have significant potential to improve phasing performance. However, accurately identifying INDELs with variant callers is challenging, and incorporating INDELs into phasing remains a complex task.
View Article and Find Full Text PDFSci Data
August 2025
Genome Medical Science Project, National Institute of Global Health and Medicine, Japan Institute for Health Security, Tokyo, 162-8655, Japan.
The selection of a reference sequence in genome analysis is critical, as it serves as the foundation for all downstream analyses. Recently, the pangenome graph has been proposed as a data model that incorporates haplotypes from multiple individuals. Here we present JaSaPaGe, a pangenome graph reference for Saudi Arabian and Japanese populations, both of which have been significantly underrepresented in previous genomic studies.
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