Search Results for "exome"

mosdepth is a fast BAM/CRAM depth calculation tool for genomic data, allowing efficient computation of sequencing coverage.

Bioinformatics pipeline for discovery of genetic variants from NGS reads.

...XCAVATOR is freely available at http://sourceforge.net/projects/xcavator/. EXCAVATOR2 is a collection of bash, R and Fortran scripts and codes that analyses Whole Exome Sequencing (WES) data to identify CNVs. EXCAVATOR2 enhances the identification of all genomic CNVs, both overlapping and non-overlapping targeted exons by integrating the analysis of In-targets and Off- targets reads. EXCAVATOR2 can be effectively employed for the identification of CNVs in small as well as large-scale re-sequencing population and cancer studies. ...

cnvOffSeq is a set of Java-based command-line tools for detecting and genotyping intergenic copy number variation (CNV) using off-target data from whole-exome sequencing experiments.

...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

MendelScan is a tool for prioritizing candidate variants in family-based studies of inherited disease.

Detection of structural variants and indels from Genome/Exome sequencing data