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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