RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

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Abstract

Motivation: The search for causative genetic variants in rare diseases of presumed monogenic inheritance has been boosted by the implementation of whole exome (WES) and whole genome (WGS) sequencing. In many cases, WGS seems to be superior to WES, but the analysis and visualization of the vast amounts of data is demanding.

Results: To aid this challenge, we have developed a new tool—RareVariantVis—for analysis of genome sequence data (including non-coding regions) for both germ line and somatic variants. It visualizes variants along their respective chromosomes, providing information about exact chromosomal position, zygosity and frequency, with point-and-click information regarding dbSNP IDs, gene association and variant inheritance. Rare variants as well as de novo variants can be flagged in different colors. We show the performance of the RareVariantVis tool in the Genome in a Bottle WGS data set.

Availability and implementation:https://www.bioconductor.org/packages/3.3/bioc/html/RareVariantVis.html

Contact:tomasz.stokowy@k2.uib.no

Supplementary information: Supplementary data are available at Bioinformatics online.

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