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Article

Long-read based detection of large copy number variants with potential functional significance using the ContextSV structural variant caller.

NAR genomics and bioinformatics - 1 Sept 2026

Perdomo Jonathan Elliot, Ahsan Mian Umair, Akoto Jasmine, Bauer James, Akizu Naiara, Wang Kai

Abstract excerpt

Long-read sequencing enables improved detection of structural variants (SVs) in the human genome due to its substantially increased read lengths. However, currently widely used long-read SV callers primarily rely on alignment-based evidence, limiting their ability to detect large and complex SVs and potentially missing disease-relevant events. To address these limitations, we developed ContextSV, a framework that...

Read the complete abstract on PubMed

Topics

Humans
DNA Copy Number Variations
Genome, Human
Polymorphism, Single Nucleotide
Genomic Structural Variation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Software

Sequence Analysis, DNA

High-Throughput Nucleotide Sequencing

Gene Frequency

Algorithms

Source

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Identifiers

PMID: 42719292
DOI: 10.1093/nargab/lqag108
PMCID: PMC13554283

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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