From Genome Analysis Wiki
Jump to navigationJump to search
280 bytes added
, 01:11, 7 March 2012
Line 1: |
Line 1: |
| + | == 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. |
Line 119: |
Line 122: |
| | | |
| == Download == | | == Download == |
− | Source code v0.02 with test files can be [[Media:polymutt.0.02.tar.gz | downloaded]] here.
| + | The latest version of source code v0.11 with test files can be [[Media:polymutt.0.11.tar.gz | downloaded]] here. |
| | | |
| == Contact == | | == Contact == |