The recent advent of third-generation sequencing technologies brings promise for better characterization of genomic structural variants by virtue of having longer reads. However, long-read applications are still constrained by their high sequencing error rates and low sequencing throughput. Here, we present NanoVar, an optimized structural variant caller utilizing low-depth (8X) whole-genome sequencing data generated by Oxford Nanopore Technologies. NanoVar exhibits higher structural variant calling accuracy when benchmarked against current tools using low-depth simulated datasets. In patient samples, we successfully validate structural variants characterized by NanoVar and uncover normal alternative sequences or alleles which are present in healthy individuals.

中文翻译：

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NanoVar：使用低深度纳米孔测序准确表征患者的基因组结构变异

最近出现的第三代测序技术通过读取更长的时间为更好地表征基因组结构变异带来了希望。然而，长读长应用仍然受到其高测序错误率和低测序通量的限制。在这里，我们展示了 NanoVar，这是一种优化的结构变异检测器，利用牛津纳米孔技术公司生成的低深度 (8X) 全基因组测序数据。当使用低深度模拟数据集对当前工具进行基准测试时，NanoVar 表现出更高的结构变体调用准确性。在患者样本中，我们成功验证了由 NanoVar 表征的结构变异，并发现了健康个体中存在的正常替代序列或等位基因。