SNPnexus v4 – Functional Annotation of novel and publicly known Genetic Variants

SNPnexus V4

:: DESCRIPTION

SNPnexus was designed to simplify and assist in the selection of functionally relevant Single Nucleotide Polymorphisms (SNP) for large-scale genotyping studies of multifactorial disorders.

::DEVELOPER

Cancer Bioinformatics Group at the Barts Cancer Institute.

:: SCREENSHOTS

N/A

:: REQUIREMENTS

Web Browser

:: DOWNLOAD

:: MORE INFORMATION

Citation

Nucleic Acids Res. 2012 Jul;40(Web Server issue):W65-70. doi: 10.1093/nar/gks364.
SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update).
Dayem Ullah AZ, Lemoine NR, Chelala C.

CADD 1.6 – Estimating the Relative Pathogenicity of human Genetic Variants

CADD 1.6

:: DESCRIPTION

CADD (Combined Annotation Dependent Depletion) is a tool for scoring the deleteriousness of single nucleotide variants as well as insertion/deletions variants in the human genome.

::DEVELOPER

Shendure Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

Linux

:: DOWNLOAD

CADD

:: MORE INFORMATION

Citation

Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2.
A general framework for estimating the relative pathogenicity of human genetic variants.
Kircher M1, Witten DM2, Jain P3, O’Roak BJ1, Cooper GM4, Shendure J5.

VariantAnnotation 1.36.0 – Annotation of Genetic Variants

VariantAnnotation 1.36.0

:: DESCRIPTION

VariantAnnotation is an R / Bioconductor package for the exploration and annotation of genetic variants. Capabilities exist for reading, writing and filtering variant call format (VCF) files

::DEVELOPER

VariantAnnotation team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

Linux / Windows / MacOsX
R package
Bioconductor

:: DOWNLOAD

VariantAnnotation

:: MORE INFORMATION

Citation

Bioinformatics. 2014 Apr 21. [Epub ahead of print]
VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants.
Obenchain V, Lawrence M, Carey V, Gogarten S, Shannon P, Morgan M.