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

Author:

Dong Shan-Shan1,He Wei-Ming2ORCID,Ji Jing-Jing3,Zhang Chi2,Guo Yan1,Yang Tie-Lin1ORCID

Affiliation:

1. Key Laboratory of Biomedical Information Engineering of Ministry of Education, School of Life Science and Technology, Xi’an Jiaotong University

2. Senior Bioinformatics Engineer in BGI Genomics

3. Junior Bioinformatics Engineer in BGI Genomics

Abstract

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.

Funder

National Natural Science Foundation of China

Natural Science Foundation of Zhejiang Province

Fundamental Research Funds for the Central Universities

Publisher

Oxford University Press (OUP)

Subject

Molecular Biology,Information Systems

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