QuadGT – Joint Variant Calling with de novo and Somatic Mutations

QuadGT

:: DESCRIPTION

QuadGT is a software package for calling single-nucleotide variants in four sequenced genomes comprising a normal-tumor pair and the two parents. Genotypes are inferred using a joint model of parental variant frequencies, de novo germline mutations, and somatic mutations. The model quantifies the descent-by-modification relationships between the unknown genotypes by using a set of parameters in a Bayesian inference setting.

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::DEVELOPER

Eric Bareke and Miklós Csűrös.

:: SCREENSHOTS

QuadGT

:: REQUIREMENTS

  • MacOsX / Linux /Windows
  • Java
  • SAMTools

:: DOWNLOAD

 QuadGT

:: MORE INFORMATION

Citation

BMC Bioinformatics. 2013;14 Suppl 5:S3. doi: 10.1186/1471-2105-14-S5-S3. Epub 2013 Apr 10.
Joint genotype inference with germline and somatic mutations.
Bareke E, Saillour V, Spinella JF, Vidal R, Healy J, Sinnett D, Csűrös M.