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Article

Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants.

Nature communications - 8 Aug 2026

Jin Weiwei, Cao Wen, Luo Haohui, Yang Wenqian, Wang Dongyang, Wu Xiaohong, Niu Xiaohui, Gong Jing

Abstract excerpt

Multi-nucleotide variants (MNVs) represent a crucial yet underexplored category of genetic variation. Despite previous studies highlighting the prevalence and potential biological impact of MNVs in populations, comprehensive identification and detailed functional annotation of MNVs remain challenging. Here, we develop MNVAnno, a toolbox for rapid identification and annotation of complex MNVs, and utilize it to...

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Topics

Humans
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Genome, Human
Molecular Sequence Annotation
Genetic Variation

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

Neoplasms

Databases, Genetic

Source

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Identifiers

PMID: 42702618
DOI: 10.1038/s41467-026-76470-y
PMCID: PMC13547334

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