Visualizing genomic information across chromosomes with PhenoGram

BioData Mining

Sarah A Pendergrass¹  Marylyn D Ritchie¹  Scott Dudek¹  Daniel Wolfe¹ 

[1]Center for Systems Genomics, Department of Biochemistry and Molecular Biology, Eberly College of Science, The Huck Institutes of the Life Sciences, The Pennsylvania State University, 512 Wartik Laboratory, University Park, PA 16802, USA

关键词: Ideogram;    SNP;    CNV;    Copy-number variants;    GWAS;    Genome-wide association study;    Bioinformatics;    Data visualization;   

Others  :  797163
DOI  :  10.1186/1756-0381-6-18

 received in 2013-08-08, accepted in 2013-10-02,  发布年份 2013

【 摘 要 】

Background

With the abundance of information and analysis results being collected for genetic loci, user-friendly and flexible data visualization approaches can inform and improve the analysis and dissemination of these data. A chromosomal ideogram is an idealized graphic representation of chromosomes. Ideograms can be combined with overlaid points, lines, and/or shapes, to provide summary information from studies of various kinds, such as genome-wide association studies or phenome-wide association studies, coupled with genomic location information. To facilitate visualizing varied data in multiple ways using ideograms, we have developed a flexible software tool called PhenoGram which exists as a web-based tool and also a command-line program.

Results

With PhenoGram researchers can create chomosomal ideograms annotated with lines in color at specific base-pair locations, or colored base-pair to base-pair regions, with or without other annotation. PhenoGram allows for annotation of chromosomal locations and/or regions with shapes in different colors, gene identifiers, or other text. PhenoGram also allows for creation of plots showing expanded chromosomal locations, providing a way to show results for specific chromosomal regions in greater detail. We have now used PhenoGram to produce a variety of different plots, and provide these as examples herein. These plots include visualization of the genomic coverage of SNPs from a genotyping array, highlighting the chromosomal coverage of imputed SNPs, copy-number variation region coverage, as well as plots similar to the NHGRI GWA Catalog of genome-wide association results.

Conclusions

PhenoGram is a versatile, user-friendly software tool fostering the exploration and sharing of genomic information. Through visualization of data, researchers can both explore and share complex results, facilitating a greater understanding of these data.

【 授权许可】

   
2013 Wolfe et al.; licensee BioMed Central Ltd.

【 图 表 】

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