Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond

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Saeidian A H ; Sabaie H ; Akbarzadeh M ; Vahidnezhad H ; Youssefian L ; Saadattalab T ; Du H ; Luo X ; Owen N M ; Zhao X ; Glessner J ; Hakonarson H

Source: Genome Biology Published:2026

Abstract

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 detection and disease association. We highlight the value of CNV analysis for uncovering genetic contributions to complex traits and disease risk and outline an analysis workflow including key benchmarking methods. We also discuss current challenges and future directions for advancing CNV detection and association analysis. © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2026.

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Style	Citing Format
MLA	Saeidian A H, et al.. "Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond." Genome Biology, vol. 27, no. 1, 2026, pp. -.
APA	Saeidian A H, Sabaie H, Akbarzadeh M, Vahidnezhad H, Youssefian L, Saadattalab T, Du H, Luo X, Owen N M, Zhao X, Glessner J, Hakonarson H (2026). Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond. Genome Biology, 27(1), -.
Chicago	Saeidian A H, Sabaie H, Akbarzadeh M, Vahidnezhad H, Youssefian L, Saadattalab T, Du H, et al.. "Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond." Genome Biology 27, no. 1 (2026): -.
Harvard	Saeidian A H et al. (2026) 'Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond', Genome Biology, 27(1), pp. -.
Vancouver	Saeidian A H, Sabaie H, Akbarzadeh M, Vahidnezhad H, Youssefian L, Saadattalab T, et al.. Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond. Genome Biology. 2026;27(1):-.
BibTex	@article{ author = {Saeidian A H and Sabaie H and Akbarzadeh M and Vahidnezhad H and Youssefian L and Saadattalab T and Du H and Luo X and Owen N M and Zhao X and Glessner J and Hakonarson H}, title = {Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond}, journal = {Genome Biology}, volume = {27}, number = {1}, pages = {-}, year = {2026} }
RIS	TY - JOUR AU - Saeidian A H AU - Sabaie H AU - Akbarzadeh M AU - Vahidnezhad H AU - Youssefian L AU - Saadattalab T AU - Du H AU - Luo X AU - Owen N M AU - Zhao X AU - Glessner J AU - Hakonarson H TI - Computational Strategies for Copy Number Variation Detection, Disease Association, and Beyond JO - Genome Biology VL - 27 IS - 1 SP - EP - PY - 2026 ER -

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