SuperLLEC：全新的链读和长读测序组装纠错算法

doi:10.3778/j.issn.1002-8331.2008-0204

摘要/Abstract

摘要： 为了解决第三代测序数据较高的错误率和提高基因组组装精度，基于10X Genomics链读测序数据设计了一种针对PacBio长读数据的组装和纠错算法SuperLLEC。该算法使用Wtdbg2算法将PacBio长读测序数据拼接成支架序列，运用Bowtie2比对工具将链读序列比对到支架序列，并根据链读条码进一步组装支架序列；对不匹配的比对位点采用Fisher精确检验预测该位点为单核酸多态性或是PacBio测序错误的碱基。通过三组人类细胞的长读数据和链读数据的算法比较实验，证明该方法能够较明显地提高基因组组装的准确度、NG50长度和单核酸多态性位点预测精度。

关键词: 链读, 长读, 支架, 组装, 纠错, Fisher精确检验

Abstract: In order to solve the high error rate of the third-generation sequencing data and improve the accuracy of genome assembly, an assembly and error correction algorithm, called SuperLLEC, is designed for the long-read data of the PacBio based on the 10X Genomics linked-read sequencing data. Wtdbg2 is employed to assemble the PacBio long reads of a genome into scaffolds. Bowtie2 is used to align each linked-read to these scaffolds, and further assemble these scaffolds based on the barcodes of linked-reads. Fisher’s exact test is used to predict whether each mismatched alignment site is a single nucleotide polymorphism（SNP） or an error base sequenced by PacBio. Algorithm comparison experiments on the long-read and linked-read data from three groups of human cells show that SuperLLEC can significantly improve the accuracy of genome assembly, increase NG50 length, and recover more SNPs.

Key words: linked-reads, long-reads, scaffolds, assembly, error correction, Fisher’s exact test

崔雅轩, 张少强. SuperLLEC：全新的链读和长读测序组装纠错算法[J]. 计算机工程与应用, 2022, 58(3): 201-206.

CUI Yaxuan, ZHANG Shaoqiang. SuperLLEC：New Assembly and Error Correction Algorithm for Long Reads and Linked-Reads[J]. Computer Engineering and Applications, 2022, 58(3): 201-206.

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