Article

Svirlpool: Multi-sample structural variant calling for Oxford Nanopore sequencing data using local read consensus assembly

2025-11-04

Abstract excerpt

<h4>Motivation</h4> Long-Read Sequencing (LRS), and Oxford Nanopore Technologies (ONT) in particular, has greatly improved the detection of structural genome variants (SVs). Fast alignment-based ONT callers achieve strong benchmark performance, but they necessarily reduce the read sequence to alignment-derived signals when deciding whether variants are shared across samples. This can be limiting for cohort and cl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b8c365f8-b2b1-57c3-a1b0-0a229d1d6359
DOI: 10.1101/2025.11.03.686231

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Svirlpool: Multi-sample structural variant calling for Oxford Nanopore sequencing data using local read consensus assemblyDOI 10.1101/2025.11.03.686231Read

SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping dataSemantic proximity Read

Accelerated and High-Accuracy Variant Calling on Oxford Nanopore Technologies Sequencing Data with the Sentieon DNAscope LongRead and Hybrid PipelinesSemantic proximity Read

Benchmarking long-read aligners and SV callers for structural variation detection in Oxford nanopore sequencing data.Semantic proximity Read

miniSNV: accurate and fast single nucleotide variant calling from nanopore sequencing data.Semantic proximity Read

Finding an optimal sequencing strategy to detect short and long genetic variants in a human genomeSemantic proximity Read

Structural variation landscape of Middle Eastern and North African individuals from long-read nanopore sequencing reveals medically relevant variantsSemantic proximity Read

Duet: SNP-Assisted Structural Variant Calling and Phasing Using Oxford Nanopore SequencingSemantic proximity Read

Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otterSemantic proximity Read

HitSV: Maximizing discovery of structural variants across sequencing technologiesSemantic proximity Read

Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing.Semantic proximity Read

Anyone can be the best: Impact of diverse methodologies on the evaluation of structural variant callersSemantic proximity Read

Investigating the performance of Oxford Nanopore long-read sequencing with respect to Illumina microarrays and short-read sequencingSemantic proximity Read