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Systematic assessment of structural variant annotation tools for genomic interpretation.

Life science alliance - 1 Mar 2025

Liu Xuanshi, Gu Lei, Hao Chanjuan, Xu Wenjian, Leng Fei, Zhang Peng, Li Wei

Abstract excerpt

Structural variants (SVs) over 50 base pairs play a significant role in phenotypic diversity and are associated with various diseases, but their analysis is complex and resource-intensive. Numerous computational tools have been developed for SV prioritization, yet their effectiveness in biomedicine remains unclear. Here we benchmarked eight widely used SV prioritization tools, categorized into knowledge-driven...

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Benchmarking
Computational Biology
Databases, Genetic
Genome, Human
Genomic Structural Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Annotation

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PMID: 39658089
DOI: 10.26508/lsa.202402949
PMCID: PMC11632063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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