Polymutt 0.18 / ​PolyMutt2 0.2 – Calling Single Nucleotide Variants and Detecting de novo point Mutation

Polymutt 0.18 / ​PolyMutt2 0.2

:: DESCRIPTION

The program polymutt implemented a likelihood-based framework for calling single nucleotide variants and detecting de novo point mutation events in families for next-generation sequencing data

​PolyMutt2 is a tools to leverage identity-by-descent (IBD) allele sharing for genotype calling in general pedigrees.

::DEVELOPER

Abecasis Group

:: SCREENSHOTS

N/A

::REQUIREMENTS

  • Linux

:: DOWNLOAD

polymutt / ​PolyMutt2

:: MORE INFORMATION

MU2A 1.0 – Single Nucleotide Variant Annotation

MU2A 1.0

:: DESCRIPTION

MU2A is a publicly available web service for variant annotation that reconciles differences between the genome and transcriptome, enabling the rapid and accurate determination of the effects of genomic variants on protein products, and the mapping of variants detected in transcripts to genomic coordinates.

::DEVELOPER

Krauthammer Lab.

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/ Linux / MacOsX
  • Java
  • Web Server
  • tomcat
  • MySQL

:: DOWNLOAD

  MU2A

:: MORE INFORMATION

Citation

MU2A–reconciling the genome and transcriptome to determine the effects of base substitutions.
Garla V, Kong Y, Szpakowski S, Krauthammer M.
Bioinformatics. 2011 Feb 1;27(3):416-8.