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在使用数字双胞胎的短读测序 (ClinRay) 中对下一代测序探针的可重复性进行临床评估
Rohan Gnanaolivu1, Neiladri Saha1, Noemi Vidal-Folch2
1Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota.
The Journal of molecular diagnostics : JMD
|August 27, 2025
概括
通过短读测序,ClinRay可以在具有挑战性的基因组区域中增强变体检测. 这种生物信息学工具通过创建合成数据来提高可复制性,帮助临床诊断.
科学领域:
- 基因组学
- 生物信息学
- 临床诊断
背景情况:
- 短读下一代测序 (NGS) 对于临床诊断至关重要,但在复杂的基因组区域中难以检测变异.
- 这些区域,包括细分重复和重复序列,影响变异检测可重现性.
- 目前的验证方法昂贵且耗时,延迟了临床结果.
研究的目的:
- 开发一种新的生物信息学方法ClinRay,以预测难以测序的基因组区域中的变异检测可重复性.
- 在复杂的基因组领域解决短读NGS的局限性.
- 提高临床应用变种检测的准确性和效率.
主要方法:
- ClinRay采用"数字双胞胎"方法,以合成增强可疑复制性差的地区的数据.
- 该模型是使用Bottle HG002细胞系中的8个基因组复制物的对齐数据进行训练的.
- 公开可用的基因组语境注释资源被整合到模型开发中.
主要成果:
- 在试验数据中,ClinRay的受体运行特征曲线 (AUC) 下的面积为0. 89 (95% CI,0. 88- 0. 90).
- 该模型在独立验证数据集上表现强,AUC为0. 85 (95% CI,0. 84- 0. 86).
- ClinRay有效地预测了短读NGS探测器检测到的变异的可重现性.
结论:
- 在具有挑战性的基因组区域中,ClinRay提供了可通用的生物信息解决方案,以提高变体检测的可重复性.
- 该方法有可能降低临床实验室的成本和周转时间.
- 在临床变异解释方面,ClinRay提高了短读NGS的可靠性.
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