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Protocol for haplotype-resolved structural variant detection via long-read sequencing using cuteHap.

Shuqi Cao·Chuanmin Wu·Yuejin He·Tao Jiang
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Abstract

Long-read sequencing technologies have revolutionized human genome exploration at an unparalleled resolution, particularly facilitating the analysis of structural variation (SV) at haplotype resolution. Here, we present a protocol for using cuteHap, a robust framework for haplotype-aware SV detection through phased alignment reads generated by diverse long-read sequencing platforms. We describe procedures for single-nucleotide variant (SNV) calling, read phasing, SV calling, and genotyping. We also establish a benchmarking pipeline to evaluate the detected SV callsets. For complete details on the use and execution of this protocol, please refer to Cao et al.1.

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Shuqi Cao, Chuanmin Wu, Yuejin He, Tao Jiang. 2026-08-28. Protocol for haplotype-resolved structural variant detection via long-read sequencing using cuteHap.. https://doi.org/10.1016/j.xpro.2026.104810

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