通过长读基因组测序解决遗传视网膜变的诊断奥德赛
Gerardo E Fabian-Morales1, Vianey Ordoñez-Labastida1,2,3, William J Rowell4
1Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
American journal of medical genetics. Part A
|June 2, 2025
概括
长读基因组测序 (LR-GS) 改善了遗传视网膜发育不良 (IRD) 的遗传诊断. 这种先进的技术成功地在三名患者中识别出了由前一代测序 (NGS) 方法遗漏的致病变体.
科学领域:
- 基因组学就是基因组学.
- 眼科医生 眼科 眼科
- 医学遗传学 医学遗传学
背景情况:
- 遗传性视网膜发育不良 (IRDs) 是具有显著遗传和表型多样性的视觉残疾单一性疾病.
- 超过300个基因与IRD有关,这给诊断带来了挑战.
- 下一代测序 (NGS) 目前为IRDs实现了~60%的分子诊断产量.
研究的目的:
- 评估长读基因组测序 (LR-GS) 在诊断IRD中的实用性.
- 证明LR-GS能够检测标准短读NGS错过的变体的能力.
- 为了提高复杂的IRD病例的诊断产量.
主要方法:
- 使用SMRTbell准备工具包准备了整个基因组库.
- 测序是在PacBio Revio系统进行的,用于长读基因组测序 (LR-GS).
- LR-GS被应用于三个具有IRD和不确定的NGS结果的探针.
主要成果:
- 在所有三个IRD试验中,LR-GS成功地建立了明确的诊断.
- 鉴定了一种同卵性深层内基USH2A变异,一种同卵性内基EYS删除,以及USH2A复合异卵性变异 (深层内基变异和重复).
- 这些变体以前无法通过标准短读NGS.检测到.
结论:
- 长读基因组测序 (LR-GS) 是诊断IRD等遗传异质疾病的强大工具.
- LR-GS克服了短读序列的局限性,特别是在复杂的变体中.
- 这项技术显著提高了遗传性视网膜变的分子诊断产量.
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