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Jump to navigationJump to searchPolymutt: a tool for calling polymorphism and de novo mutations in families for sequencing data (view source)
Revision as of 01:11, 7 March 2012
, 01:11, 7 March 2012no edit summary
== Updates ==
The latest version of 0.11 is available for [[#Download | Download ]]. In this new version, variant calling for X, Y and MT chromosomes is available. Note that '''''de novo''''' mutation detection for X, Y and MT has NOT been implemented yet.
== Introduction ==
== Introduction ==
* 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. The program takes as input genotype likelihood format (GLF) files which can be generated following the [[#Creation of GLF files | Creation of GLF files]] instruction and outputs the result in the [[http://www.1000genomes.org/node/101 VCF]] format. The variant calling and ''de novo'' mutation detection are modelled jointly within families and can handle both nuclear and extended pedigrees without consanguinity loops. The input is a set of GLF files for each of family members and the relationships are specified through the .ped file.
* 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. The program takes as input genotype likelihood format (GLF) files which can be generated following the [[#Creation of GLF files | Creation of GLF files]] instruction and outputs the result in the [[http://www.1000genomes.org/node/101 VCF]] format. The variant calling and ''de novo'' mutation detection are modelled jointly within families and can handle both nuclear and extended pedigrees without consanguinity loops. The input is a set of GLF files for each of family members and the relationships are specified through the .ped file.
== Download ==
== Download ==
The latest version of source code v0.11 with test files can be [[Media:polymutt.0.11.tar.gz | downloaded]] here.
== Contact ==
== Contact ==
