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HaploSNPer: a web-based allele and SNP detection tool

机译:HaploSNPer:基于Web的等位基因和SNP检测工具

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摘要

BackgroundSingle nucleotide polymorphisms (SNPs) and small insertions or deletions (indels) are the most common type of polymorphisms and are frequently used for molecular marker development. Such markers have become very popular for all kinds of genetic analysis, including haplotype reconstruction. Haplotypes can be reconstructed for whole chromosomes but also for specific genes, based on the SNPs present. Haplotypes in the latter context represent the different alleles of a gene. The computational approach to SNP mining is becoming increasingly popular because of the continuously increasing number of sequences deposited in databases, which allows a more accurate identification of SNPs. Several software packages have been developed for SNP mining from databases. From these, QualitySNP is the only tool that combines SNP detection with the reconstruction of alleles, which results in a lower number of false positive SNPs and also works much faster than other programs. We have build a web-based SNP discovery and allele detection tool (HaploSNPer) based on QualitySNP.
机译:背景技术单核苷酸多态性(SNP)和小的插入或缺失(indels)是最常见的多态性类型,经常用于分子标记开发。此类标记已广泛用于包括单倍型重建在内的各种遗传分析。基于存在的SNP,可以为整个染色体也可以为特定基因重建单倍型。在后一种情况下,单倍型代表基因的不同等位基因。由于数据库中存放的序列数量不断增加,用于SNP挖掘的计算方法正变得越来越流行,这使得可以更准确地识别SNP。已经开发了一些软件包用于从数据库中进行SNP挖掘。从这些数据中,QualitySNP是将SNP检测与等位基因重建结合在一起的唯一工具,这可以减少假阳性SNP的数量,并且比其他程序运行更快。我们已经基于QualitySNP构建了一个基于Web的SNP发现和等位基因检测工具(HaploSNPer)。

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