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



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.



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



tomasz.stokowy@k2.uib.no



Supplementary data are available at Bioinformatics online.
Department of Clinical Science, University of Bergen, Bergen 5020, Norway Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway.
Tomasz
T
Stokowy
Department of Informatics, Silesian University of Technology, Gliwice 44-100, Poland.
Mateusz
M
Garbulowski
Department of Clinical Science, University of Bergen, Bergen 5020, Norway Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway.
Torunn
T
Fiskerstrand
Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
Rita
R
Holdhus
Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway.
Kornel
K
Labun
Department of Clinical Science, University of Bergen, Bergen 5020, Norway Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway.
Pawel
P
Sztromwasser
Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525, The Netherlands.
Christian
C
Gilissen
Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525, The Netherlands.
Alexander
A
Hoischen
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway.
Gunnar
G
Houge
Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway.
Kjell
K
Petersen
Department of Informatics, Computational Biology Unit, University of Bergen, Bergen 5020, Norway.
Inge
I
Jonassen
Department of Clinical Science, University of Bergen, Bergen 5020, Norway Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway.
Vidar M
VM
Steen
D059472:Exome; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D035583:Rare Diseases / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*