Litcius/Paper detail

LDBlockShow: a fast and convenient tool for visualizing linkage disequilibrium and haplotype blocks based on variant call format files

Shan‐Shan Dong, Weiming He, Jingjing Ji, Chi Zhang, Yan Guo, Tie‐Lin Yang

2020Briefings in Bioinformatics585 citationsDOI

Abstract

The triangular correlation heatmap aiming to visualize the linkage disequilibrium (LD) pattern and haplotype block structure of SNPs is ubiquitous component of population-based genetic studies. However, current tools suffered from the problem of time and memory consuming. Here, we developed LDBlockShow, an open source software, for visualizing LD and haplotype blocks from variant call format files. It is time and memory saving. In a test dataset with 100 SNPs from 60 000 subjects, it was at least 10.60 times faster and used only 0.03-13.33% of physical memory as compared with other tools. In addition, it could generate figures that simultaneously display additional statistical context (e.g. association P-values) and genomic region annotations. It can also compress the SVG files with a large number of SNPs and support subgroup analysis. This fast and convenient tool will facilitate the visualization of LD and haplotype blocks for geneticists.

Topics & Concepts

HaplotypeLinkage disequilibriumComputer scienceVisualizationContext (archaeology)Linkage (software)Block (permutation group theory)SoftwareSingle-nucleotide polymorphismPopulationData miningGeneticsBiologyProgramming languageAlleleGenotypeMathematicsGeneDemographySociologyGeometryPaleontologyGenetic Associations and EpidemiologyBioinformatics and Genomic NetworksGenetic Mapping and Diversity in Plants and Animals