使用牛津纳米孔测序系统进行法医DNA表型化
Veysel Sapan1, Sumeyye Zulal Simsek1, Gonul Filoğlu1
1Institute of Forensic Sciences and Legal Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Electrophoresis
|May 25, 2024
概括
牛津纳米孔测序 (ONT) 为法医遗传学提供了有希望的结果,结合显著提高了HIrisPlex-S面板的基因型准确性. 需要进一步优化以解决错误率并提高可靠性.
科学领域:
- 法医遗传学 法医遗传学
- 下一代测序的测序方法
- 人类识别 人类识别
背景情况:
- 法医科学需要精确,一致和具有成本效益的方法来识别人类.
- 为了满足这些需求,正在探索下一代测序 (NGS) 技术.
- HIrisPlex-S面板包括41个单核酸多态 (SNP) 标记,对于预测眼睛,头发和皮肤颜色等表型特征至关重要.
研究的目的:
- 调查牛津纳米孔测序 (ONT) 技术分析HIrisPlex-S面板的潜力.
- 通过将其与常规毛细管电泳 (CE) 进行比较,评估ONT生成数据的准确性和可靠性.
- 评估绑定对ONT测序精度对法医学遗传分析的影响.
主要方法:
- 牛津纳米孔测序 (ONT) 用于分析HIrisPlex-S面板的18个样本.
- 使用Guppy v6.1调用了ONT数据,并使用Burrows-Wheeler Aligner,Samtools,BCFtools和Python进行了处理.
- 将ONT无结合和ONT结合样本与毛细管电泳 (CE) 数据之间的基因型准确性进行了比较.
主要成果:
- 在ONT未结合样本中,SNP基因型正确性为62%,其中36%的基因脱落,2%的基因型不正确.
- 与ONT结合的样本显示出更高的准确性,SNP基因型识别85%正确,10%的等位基因脱落,5%的基因型识别不正确.
- 基于ONT数据的表型预测显示出不同但往往高的准确性,尽管存在已知的错误率,但仍有潜力.
结论:
- ONT 测序,特别是带带测序,显著提高了法医遗传学中的 HIrisPlex-S 面板的基因型准确性和覆盖范围.
- 虽然ONT显示出前景,但与错误率相关的挑战需要进一步优化和严格的质量控制措施.
- 这项研究有助于完善序列读取调整和改进ONT技术在法医应用中的校正工具.
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