Search Results for "exome"
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Showing 4 open source projects for "exome"
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MitoSAlt
Identification of mitochondrial structural alterations
MitoSAlt is a pipeline to identify large deletions and duplications in human and mouse mitochondrial genomes from next generation whole genome/exome sequencing data. The pipeline is capable of analyzing any circular genome in principle, as long as a proper configuration file is provided. -
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scalpel
Genetic variants discovery tool
Bioinformatics pipeline for discovery of genetic variants from NGS reads. -
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fastq2vcf
WES analysis pipeline
fasq2vcf is a program that generates an analysis pipeline for Whole Exome Sequencing (WES) projects. It takes the raw reads through to variant calling and annotation. -
4
EXCAVATOR-tool
Tool for detecting CNVs from whole-exome sequencing data
...XCAVATOR is freely available at http://sourceforge.net/projects/xcavator/. EXCAVATOR is a novel software package for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR has been published on Genome Biology (http://genomebiology.com/2013/14/10/R120/abstract). #################### ATTENTION!!!!! In order to use properly the EXCAVATOR tool, users must download the uniqueome mappability files at the following link: http://grimmond.imb.uq.edu.au/uniqueome/downloads/hg19_uniqueome.coverage.base-space.25.1.Wig.gz (for hg19) http://grimmond.imb.uq.edu.au/uniqueome/downloads/hg18_uniqueome.coverage.base-space.25.1.Wig.gz -
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