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长期读取的基因组测序增强了儿科神经疾病的诊断

Marlene Ek^1,2, Malin Kvarnung^3,4, Esmee Ten Berk de Boer^3,4,5

¹Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, 171 64, Sweden. marlene.ek.2@ki.se.

Genome medicine

|January 9, 2026

概括

长读基因组测序 (GS) 为诊断儿童神经系统疾病提供了显著的附加值,比短读GS检测出更广泛的变异. 这种先进的方法简化了基因检测,并提高了复杂病例的诊断精度.

科学领域:

基因组学就是基因组学.
临床诊断临床诊断临床诊断
儿科神经学儿科神经学

背景情况:

简读基因组测序 (GS) 是儿童神经疾病的标准一线遗传测试,产生26-35%的诊断.
这种方法通常可以识别单核酸变异/小插入/删除 (SNV/INDEL),结构变异 (SV) 和短串联重复 (STR).
长期阅读的GS是全面基因组评估的新兴替代方案,但其临床实用性需要评估.

研究的目的:

为了前性地评估长期阅读的GS的临床实用性,作为儿科神经系统疾病的第一线遗传测试.
将长读GS的诊断产量和变异检测能力与标准短读GS进行比较.

主要方法:

100名患有神经系统疾病的儿童和青少年同时接受了短阅读和长阅读的GS.
长时间阅读的GS数据被分析为全面的变体调用,分相和甲基化分析.
变种解释侧重于智力障碍或神经肌肉疾病的in-silico基因面板.

主要成果:

短读和长读GS都实现了29%的诊断产量,识别了SNV/INDEL,SV和STR.
长期阅读的GS在13个病例中提供了额外的诊断见解,包括SMN1分阶段,双性SNV/INDEL,准确的STR分析和SV特征.
长读GS检测到复杂的结构变异和异常的甲基化模式,有助于精确的诊断.

结论:

长读GS是一种宝贵的儿科神经疾病的第一线测试,可以捕捉到广泛的变异.
它减少了对后续测试的需求,并使变种解释更加精确.
虽然诊断产量可能与短读GS相似,但长读GS在各种变体类型中提供了显著的附加值.

关键词:

染色体的重新安排.临床诊断临床诊断临床诊断长读序列的测序方式甲基化分析的分析方法罕见疾病是一种罕见的疾病.简短的双重重复扩展.短读序列的测序方式单个核酸变体的变体结构变体结构变体整个基因组的测序.

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