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

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, and direct calculation from variant call format (VCF) files is not supported. Here we developed LDBlockShow, an open source software, for visualizing LD and haplotype blocks from VCF files. It is time and memory saving. In a test dataset with 100 SNPs from 60,000 subjects, it was at least 429.03 times faster and used only 0.04% – 20.00% of physical memory as compared to 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 large number of SNPs and support subgroup analysis. This fast and convenient tool would facilitate the visualization of LD and haplotype blocks for geneticists.

[1]  R. Lewontin The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models. , 1964, Genetics.

[2]  Mark Daly,et al.  Haploview: analysis and visualization of LD and haplotype maps , 2005, Bioinform..

[3]  Yan Guo,et al.  An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation. , 2018, American journal of human genetics.

[4]  K. Tokunaga,et al.  Genome-Wide Association Study Confirming a Strong Effect of HLA and Identifying Variants in CSAD/lnc-ITGB7-1 on Chromosome 12q13.13 Associated With Susceptibility to Fulminant Type 1 Diabetes , 2018, Diabetes.

[5]  Simon Fraser,et al.  LDheatmap : An R Function for Graphical Display of Pairwise Linkage Disequilibria between Single Nucleotide Polymorphisms , 2010 .

[6]  Gonçalo R. Abecasis,et al.  The variant call format and VCFtools , 2011, Bioinform..

[7]  Terry Burke,et al.  Genetics and evidence for balancing selection of a sex-linked colour polymorphism in a songbird , 2019, Nature Communications.

[8]  W. G. Hill,et al.  Linkage disequilibrium in finite populations , 1968, Theoretical and Applied Genetics.

[9]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[10]  S. Gabriel,et al.  The Structure of Haplotype Blocks in the Human Genome , 2002, Science.

[11]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[12]  Don C. Jones,et al.  Genomic diversifications of five Gossypium allopolyploid species and their impact on cotton improvement , 2020, Nature Genetics.