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LDpop: an interactive online tool to calculate and visualize geographic LD patterns.
BMC Bioinformatics ( IF 3 ) Pub Date : 2020-01-10 , DOI: 10.1186/s12859-020-3340-1
T A Alexander 1 , M J Machiela 2
Affiliation  

BACKGROUND Linkage disequilibrium (LD)-the non-random association of alleles at different loci-defines population-specific haplotypes which vary by genomic ancestry. Assessment of allelic frequencies and LD patterns from a variety of ancestral populations enables researchers to better understand population histories as well as improve genetic understanding of diseases in which risk varies by ethnicity. RESULTS We created an interactive web module which allows for quick geographic visualization of linkage disequilibrium (LD) patterns between two user-specified germline variants across geographic populations included in the 1000 Genomes Project. Interactive maps and a downloadable, sortable summary table allow researchers to easily compute and compare allele frequencies and LD statistics of dbSNP catalogued variants. The geographic mapping of each SNP's allele frequencies by population as well as visualization of LD statistics allows the user to easily trace geographic allelic correlation patterns and examine population-specific differences. CONCLUSIONS LDpop is a free and publicly available cross-platform web tool which can be accessed online at https://ldlink.nci.nih.gov/?tab=ldpop.

中文翻译:

LDpop:一种交互式在线工具,用于计算和可视化地理LD模式。

背景技术连锁不平衡(LD)-等位基因在不同基因座的非随机关联-定义了随基因组祖先而变化的群体特异性单倍型。对来自各种祖先种群的等位基因频率和LD模式的评估,使研究人员能够更好地了解种群历史,并提高对风险因种族而异的疾病的遗传认识。结果我们创建了一个交互式Web模块,该模块可快速地理显示1000个基因组计划中两个跨地理种群的用户指定的种系变异之间的连锁不平衡(LD)模式。交互式地图和可下载的可分类汇总表,使研究人员可以轻松计算和比较dbSNP分类变体的等位基因频率和LD统计。每个SNP等位基因频率的按人口分布的地理分布图以及LD统计数据的可视化,使用户可以轻松地追踪地理等位基因相关模式并检查特定群体的差异。结论LDpop是一个免费且可公开获得的跨平台Web工具,可以从https://ldlink.nci.nih.gov/?tab=ldpop在线访问。
更新日期:2020-01-11
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