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通过HiFi长时间读取基因组测序来揭开未被诊断的罕见疾病病例

Wouter Steyaert, Lydia Sagath, German Demidov

medRxiv : the preprint server for health sciences

|May 15, 2024

概括

在之前未被诊断的罕见疾病家族中,HiFi长时间读取序列识别了17.3%的遗传原因. 这种先进的基因组方法可以检测结构变异,SNV,InDels和STR扩张,帮助诊断罕见疾病.

科学领域:

基因组学就是基因组学.
罕见疾病罕见疾病
遗传诊断遗传诊断遗传诊断是一个

背景情况:

尽管进行了广泛的测试,但罕见疾病 (RD) 往往缺乏分子诊断.
识别致病性遗传变异对于理解疾病机制和患者护理至关重要.

研究的目的:

利用HiFi长读测序 (LRS) 来检测未解决的罕见病家族中的多种遗传变异.
改善基因未诊断的罕见疾病队列的诊断产量.

主要方法:

在114个遗传未诊断的罕见疾病家族中的293个人中利用了10倍的HiFi LRS覆盖.
专注于检测结构变异 (SVs),单核酸变异 (SNVs),插入删除 (InDels) 和短串重复 (STR) 扩展.
包括患有"无法解决"综合征的家庭以及没有先前遗传诊断的神经,神经肌肉或疾病的家庭.

主要成果:

在可能引起疾病的变异 (SNVs,InDels,SVs,STR扩展) 中实现了13.0%的诊断收益率.
在另外4.3%的家族中确定了引起疾病的候选SVs,包括基因融合和删除.
对于"无法解决"的综合征,没有发现任何共同的遗传原因.

结论:

在罕见疾病诊断中,HiFi LRS显著提高了各种遗传变异类型的检测能力.
这项技术为诊断以前未解决的罕见疾病病例提供了附加值.
对"无法解决"的罕见疾病综合征需要进一步的研究.

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