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

Tomasz Stokowy | Zendy; Mateusz Garbulowski | Zendy; Torunn Fiskerstrand | Zendy; Rita Holdhus | Zendy; Kornel Labun | Zendy; Paweł Sztromwasser | Zendy; Christian Gilissen | Zendy; Alexander Hoischen | Zendy; Gunnar Houge | Zendy; Kjell Petersen | Zendy; Inge Jonassen | Zendy; Vidar M. Steen | Zendy

Open Access

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

Author(s) -

Tomasz Stokowy,

Mateusz Garbulowski,

Torunn Fiskerstrand,

Rita Holdhus,

Kornel Labun,

Paweł Sztromwasser,

Christian Gilissen,

Alexander Hoischen,

Gunnar Houge,

Kjell Petersen,

Inge Jonassen,

Vidar M. Steen

Publication year - 2016

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btw359

Subject(s) - dbsnp , whole genome sequencing , genome , genome browser , reference genome , biology , genetics , bioconductor , visualization , computational biology , indel , cancer genome sequencing , genomics , computer science , gene , data mining , single nucleotide polymorphism , genotype

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.

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