G3 (Bethesda). 2011 Aug;1(3):171-82. doi: 10.1534/g3.111.000240. Epub 2011 Aug 1.
Advances in sequencing technology provide special opportunities for genotyping individuals with speed and thrift, but the lack of software to automate the calling of tens of thousands of genotypes over hundreds of individuals has hindered progress. Stacks is a software system that uses short-read sequence data to identify and genotype loci in a set of individuals either de novo or by comparison to a reference genome. From reduced representation Illumina sequence data, such as RAD-tags, Stacks can recover thousands of single nucleotide polymorphism (SNP) markers useful for the genetic analysis of crosses or populations. Stacks can generate markers for ultra-dense genetic linkage maps, facilitate the examination of population phylogeography, and help in reference genome assembly. We report here the algorithms implemented in Stacks and demonstrate their efficacy by constructing loci from simulated RAD-tags taken from the stickleback reference genome and by recapitulating and improving a genetic map of the zebrafish, Danio rerio.
测序技术的进步为个体的快速、节约基因型鉴定提供了特殊的机会,但缺乏能够自动调用数万个基因型的软件,这阻碍了进展。Stacks 是一个软件系统,它使用短读序列数据来识别和分型一组个体中的基因座,无论是从头开始还是与参考基因组进行比较。从简化的代表性 Illumina 序列数据(如 RAD 标签)中,Stacks 可以恢复数千个单核苷酸多态性(SNP)标记,这些标记可用于杂交或群体的遗传分析。Stacks 可以生成用于超密集遗传连锁图谱的标记,有助于研究种群系统地理学,并有助于参考基因组组装。我们在这里报告了 Stacks 中实现的算法,并通过从刺鱼参考基因组中提取的模拟 RAD 标签构建基因座,以及通过重现和改进斑马鱼、Danio rerio 的遗传图谱来证明其功效。