FLED:一个全长的eccDNA检测器,用于长读数测序数据
Fuyu Li1, Wenlong Ming2, Wenxiang Lu1
1State Key Laboratory of Digital Medical Engineering, School of Biological Science and Medical Engineering, Southeast University, Nanjing, 210096, P. R. China.
Briefings in bioinformatics
|November 6, 2023
概括
一种名为全长eccDNA检测 (FLED) 的新算法,使用纳米孔长读测序重建了染色体外圆形DNA (eccDNA) 序列. 这种方法实现了高通量检测,并揭示了eccDNAs.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 从短读数中重建染色体外圆形DNA (eccDNA) 序列是很困难的,因为它与线性DNA相似.
- 现有的检测全长eccDNA的高通量方法是有限的.
研究的目的:
- 开发一种新的算法,用于高通量,全长的eccDNA序列重建.
- 研究eccDNAs在生物过程中的作用,特别是癌症.
主要方法:
- 开发了全长eccDNA检测 (FLED) 算法.
- 结合滚动圆放大与纳米孔长读测序技术.
- 使用聚合酶链反应 (PCR) 和桑格测序验证的eccDNA结构.
主要成果:
- 在7个人类细胞系中,每个样本中识别出超过5000个全长的eccDNA.
- 与现有的基于纳米孔的eccDNA检测器相比,FLED的灵敏度更高.
- 发现了与癌症相关的基因和cis调节元件重叠的eccDNA,在瘤细胞中表达失调.
结论:
- FLED使得全长eccDNA序列的无偏见,高通量重建成为可能.
- 在生物过程中,eccDNAs起着调节作用,包括癌症的发展.
- 该FLED算法是自由可用的研究使用.
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