URL: http://genome.sph.umich.edu/wiki/Polymutt
Proper Citation: POLYMUTT (RRID:SCR_002051)
Description: Software program that 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 instruction and outputs the result in the (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. (entry from Genetic Analysis Software)
Abbreviations: Polymutt
Synonyms: POLYmorphism and de novo MUTaTion call in families with sequencing data
Resource Type: software resource, software application
Defining Citation: PMID:23055937
Keywords: gene, genetic, genomic, next-generation sequencing, mutation, de novo point mutation, single nucleotide variant
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