Department of Molecular Physiology, Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA.
Bioinformatics. 2010 Feb 15;26(4):578-9. doi: 10.1093/bioinformatics/btp678. Epub 2010 Feb 3.
Often in human genetic analysis, multiple tables of single nucleotide polymorphism (SNP) statistics are shown alongside a Haploview style correlation plot. Readers are then asked to make inferences that incorporate knowledge across these multiple sets of results. To better facilitate a collective understanding of all available data, we developed a Ruby-based web application, LD-Plus, to generate figures that simultaneously display physical location of SNPs, binary SNP attributes (such as coding/non-coding or presence on genotyping platforms), common haplotypes and their frequencies and continuously scaled values (such as F(st), minor allele frequency, genotyping efficiency or P-values), all in the context of the D' and r(2) linkage disequilibrium structures. Combining these results into one comprehensive figure reduces dereferencing between figures and tables, and can provide unique insights into genetic features that are not clearly seen when results are partitioned across multiple figures and tables.
在人类遗传分析中,通常会同时展示多个单核苷酸多态性 (SNP) 统计表格和 Haploview 风格的相关图。然后,要求读者根据这些多组结果进行推断。为了更好地帮助读者全面了解所有可用数据,我们开发了一个基于 Ruby 的 Web 应用程序 LD-Plus,用于生成能够同时显示 SNP 物理位置、SNP 二进制属性(如编码/非编码或在基因分型平台上的存在)、常见单倍型及其频率和连续比例值(如 F(st)、次要等位基因频率、基因分型效率或 P 值)的图形,所有这些都在 D' 和 r(2) 连锁不平衡结构的背景下。将这些结果组合到一个综合图形中,可以减少图形和表格之间的交叉引用,并可以提供遗传特征的独特见解,这些特征在将结果划分为多个图形和表格时可能无法清楚地看到。