Article
RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.
Bioinformatics (Oxford, England) - 1 Oct 2016
Stokowy Tomasz, Garbulowski Mateusz, Fiskerstrand Torunn, Holdhus Rita, Labun Kornel, Sztromwasser Pawel, Gilissen Christian, Hoischen Alexander, Houge Gunnar, Petersen Kjell, Jonassen Inge, Steen Vidar M
Abstract excerpt
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...
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