一种具有成本效益的测序方法,用于基因研究,结合高深度全系外基因组和低深度全基因组
Claude Bhérer1,2,3, Robert Eveleigh2,4, Katerina Trajanoska1,2,3
1Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montréal, Québec, Canada.
NPJ genomic medicine
|February 7, 2024
概括
整个外基因组基因组测序 (WEGS) 为遗传研究的传统方法提供了一种具有成本效益的替代方案. 这种方法以显著降低的成本实现了与整体外基因组测序相似的变异检测准确度.
科学领域:
- 基因组学就是基因组学.
- 遗传关联研究 遗传关联研究
- 生物信息学是一种生物信息学.
背景情况:
- 高深度全基因组测序 (WGS) 准确识别遗传变异,但成本高昂.
- 由于成本限制,大规模研究通常依赖于基因型阵列或整个外基因组测序 (WES).
- 现有的方法可能会错过非编码变体,或依赖于归算,这有局限性.
研究的目的:
- 引入和评估全系外基因组测序 (WEGS),一种新且具有成本效益的测序策略.
- 评估WEGS在成本,变种检测准确性和捕获特定种群变种的能力方面的表现.
- 在现实世界疾病关联研究中证明WEGS的实用性.
主要方法:
- WEGS将低深度WGS与高深度WES相结合,使用多重复合 (共计多达8个样本).
- 在四种不同的深度和多重复合配置中对WEGS性能进行实验性评估.
- 在862名患有外周动脉疾病的患者中应用最佳WEGS配置.
主要成果:
- 最佳WEGS配置比标准WES和高深度WGS便宜1.7-2.1倍.
- 对于编码变体,WEGS的回忆率和精度相当于WES.
- WEGS捕获的种群特异变异比基因型归算方法更多.
- 在外围动脉疾病患者中,WEGS识别了比基因型阵列更多已知的与疾病相关的变异,包括数千个不可归因的变异.
结论:
- WEGS提供了一种具有成本效益和准确的基因变异发现方法.
- 这种方法提高了识别人类疾病遗传基础的能力,特别是通过捕获其他方法遗漏的变异.
- 在大规模的遗传关联研究和临床应用中,WEGS是一个有价值的工具.
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