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Article

Computational strategies for copy number variation detection, disease association, and beyond.

Genome biology - 10 Jul 2026

Saeidian Amir Hossein, Sabaie Hani, Akbarzadeh Mahdi, Vahidnezhad Hassan, Youssefian Leila, Saadattalab Toktam, Du Haowei, Luo Xi, Owen Nichole Marie, Zhao Xiaonan, Glessner Joseph, Hakonarson Hakon

Abstract excerpt

Copy number variations (CNVs) are key structural variations that contribute to human genetic diversity, evolution, and disease susceptibility. Advances in sequencing technologies and computational methods have improved CNV detection, yet association studies remain challenged by methodological limitations and a lack of standardisation. This review provides an overview of computational strategies for germline CNV...

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Topics

Humans
DNA Copy Number Variations
Genetic Predisposition to Disease
Computational Biology
Genome-Wide Association Study

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Identifiers

PMID: 42432789
DOI: 10.1186/s13059-026-04189-6
PMCID: PMC13551817

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