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SWEEP:一种用于筛选多倍体作物中高质量单核苷酸多态性的工具。

SWEEP: A Tool for Filtering High-Quality SNPs in Polyploid Crops.

作者信息

Clevenger Josh P, Ozias-Akins Peggy

机构信息

Institute of Plant Breeding, Genetics and Genomics, The University of Georgia, Tifton, Georgia 31793.

Institute of Plant Breeding, Genetics and Genomics, The University of Georgia, Tifton, Georgia 31793

出版信息

G3 (Bethesda). 2015 Jul 6;5(9):1797-803. doi: 10.1534/g3.115.019703.

Abstract

High-throughput next-generation sequence-based genotyping and single nucleotide polymorphism (SNP) detection opens the door for emerging genomics-based breeding strategies such as genome-wide association analysis and genomic selection. In polyploids, SNP detection is confounded by a highly similar homeologous sequence where a polymorphism between subgenomes must be differentiated from a SNP. We have developed and implemented a novel tool called SWEEP: Sliding Window Extraction of Explicit Polymorphisms. SWEEP uses subgenome polymorphism haplotypes as contrast to identify true SNPs between genotypes. The tool is a single command script that calls a series of modules based on user-defined options and takes sorted/indexed bam files or vcf files as input. Filtering options are highly flexible and include filtering based on sequence depth, alternate allele ratio, and SNP quality on top of the SWEEP filtering procedure. Using real and simulated data we show that SWEEP outperforms current SNP filtering methods for polyploids. SWEEP can be used for high-quality SNP discovery in polyploid crops.

摘要

基于高通量下一代测序的基因分型和单核苷酸多态性(SNP)检测为新兴的基于基因组学的育种策略(如全基因组关联分析和基因组选择)打开了大门。在多倍体中,SNP检测因高度相似的同源序列而变得复杂,其中亚基因组之间的多态性必须与SNP区分开来。我们开发并实施了一种名为SWEEP的新型工具:显式多态性滑动窗口提取。SWEEP使用亚基因组多态性单倍型作为对照,以识别基因型之间的真正SNP。该工具是一个单命令脚本,根据用户定义的选项调用一系列模块,并将排序/索引的bam文件或vcf文件作为输入。过滤选项非常灵活,除了SWEEP过滤程序外,还包括基于序列深度、替代等位基因比率和SNP质量的过滤。使用真实和模拟数据,我们表明SWEEP在多倍体SNP过滤方法方面优于当前方法。SWEEP可用于多倍体作物的高质量SNP发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9995/4555216/d31d8f9ef746/1797f1.jpg

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