这篇文章探讨了将长读长全基因组测序（LR-WGS）整合到罕见疾病临床诊断中的益处与挑战。文章指出，尽管当前的短读长测序技术有所进步，但仍有超过一半的罕见病患者无法得到诊断，这凸显了现有方法的局限性。LR-WGS被认为是一种很有前景的技术，因为它能检测用其他方法难以发现的变异，并能进行单体型分析和甲基化分析。然而，将LR-WGS引入常规临床实践需要标准化协议、质量参数以及开发先进的数据分析和解释工具。作者们还详细介绍了现有的LR-WGS平台，例如PacBio SMRT HiFi测序和Oxford Nanopore Technologies测序，并讨论了其在单体型定相、结构变异检测、短串联重复序列扩增检测和甲基化分析等方面的优势。References: Eisfeldt J, Ek M, Nordenskjöld M, et al. Toward clinical long-read genome sequencing for rare diseases[J]. Nature Genetics, 2025: 1-10.
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