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低通全基因组测序作为低收入和中等收入国家染色体微阵列分析的经济有效替代方案

Patricia C Mazzonetto^1,2, Darine Villela², Ana C V Krepischi¹

¹The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

American journal of medical genetics. Part A

|June 26, 2024

概括

低通全基因组测序 (LP-WGS) 提供了一种具有成本效益的方法来检测副本数变异 (CNV),在患有神经发育障碍的患者中达到16%的诊断产量. 这种方法是染色体微阵列分析 (CMA) 的可行替代方案.

科学领域:

遗传学是一个遗传学.
基因组学就是基因组学.
临床细胞遗传学

背景情况:

染色体微阵列分析 (CMA) 是检测复制数变异 (CNV) 的标准,但可能昂贵.
低通全基因组测序 (LP-WGS) 提供了一个潜在的更实惠的基于测序的替代方案.
在许多地区,包括巴西,成本障碍限制了对基因测试的访问.

研究的目的:

评估LP-WGS在CNV检测中的效率和可靠性.
在临床环境中比较LP-WGS与CMA的性能.
评估LP-WGS作为神经发育障碍的成本有效的诊断工具.

主要方法:

在1363名患有不明原因的神经发育迟缓,智力障碍,自闭症谱系障碍或多种先天异常的患者身上进行了LP-WGS.
来自巴西各地15个中心的患者被转诊.
分析使用商业软件在1x覆盖率 (>50kb) 上检测CNV.

主要成果:

在22% (304/1363) 的病例中,LP-WGS确定了CNV.
在16% (219/1363) 的队列中发现了致病性/可能致病性 (P/LP) CNV.
不确定意义的变异 (VUS) 占积极结果的6% (85/1363).

结论:

根据LP-WGS的证明,用于检测CNVs的诊断产量与CMA相当.
使用商业软件有助于在临床实验室中实施LP-WGS.
LP-WGS是CMA的成本效益较高的替代方案,特别有利于像巴西这样的资源有限的环境.

关键词:

在CNV中,CNV是NV.副本编号变体副本编号变体细胞遗传学细胞遗传学低通的全基因组测序.下一代测序 (NGS) 是指下一代的测序.产后诊断产后诊断产后诊断产后诊断结构变体结构变体

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