Search Results for "exome" - Page 2
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Showing 37 open source projects for "exome"
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ADTEx
Aberration detection in tumour exome
Aberration Detection in Tumour Exome (ADTEx) is a tool for copy number variation (CNV) detection for whole-exome data from paired tumour/matched normal samples. -
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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. -
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cnvOffSeq
detecting & genotyping intergenic CNVs using off-target exome data
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. -
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snpSniffer
snpSniffer is a sample integrity checking tool for NGS data
-- About snpSniffer -- snpSniffer is a genotype based sample integrity checking tool for next generation sequencing data. It ensures no sample mixups have occurred by checking genotype concordance of carefully curated genomic loci. It currently works on whole genome, exome and RNA-Seq data. Identifying mixups involves 3 steps 1. Generate the genotypes in a vcf format at specific genomic loci 2. Adding the genotypes generated to a flat file "database.ini" provided 3. Compare the genotypes for samples of interest, examine the snpSniffer output and infer if any mixups occurred All the above steps can be run using snpSniffer -
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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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H3M2
H3M2: Detection of ROH from whole-exome sequencing data
...We recently published on Computational and Structural Biotechnology Journal (CSBJ) a novel software package, named AUDACITY, for the identification of Runs of Homozygosity by using VCF files from whole-exome and whole-genome sequencing data generated by second generation sequencing technologies. (https://www.sciencedirect.com/science/article/pii/S2001037020303354). AUDACITY is freely available at https://sourceforge.net/projects/audacity-tool/. H3M2 is novel computational approach for the identification of Runs of Homozygosity by using whole-exome sequencig data generated by second generation sequencig technologies. ###################################################################### The H3M2 algorithm has been published on Bioinformatics. ... -
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FishingCNV
Copy number variation (CNV) detection in exome sequencing data
FishingCNV, a software tool developed at McGill University, is a tool for comprehensive analysis of rare copy number variations in high-throughput exome sequencing data. The inputs are standard coverage files produced by Genome Analysis ToolKit (GATK), and the output is a file containing putative CNVs. The program comes in 2 different releases * GUI version (FishingCNV_X.X.X.zip) * Command line version (FishingCNV_X.X_pipeline) Browse through our files to find the different releases. -
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MendelScan
Variant scoring and linkage mapping for family exome sequencing
MendelScan is a tool for prioritizing candidate variants in family-based studies of inherited disease. -
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Onco-STS
A web-based Laboratory Information Management System
Onco-STS is a web-based Laboratory Information Management System for sample and analysis tracking in oncogenomic experiments. The systematic sequencing and analysis of tumour samples, as well other oncogenomic experiments, necessitates the tracking of relevant sample information throughout the investigative process. These meta-data of the sequencing and analysis procedures include information about the samples and projects as well as the sequencing centers, platforms, data locations,... -
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CoNIFER
Homepage for CoNIFER (Copy Number Inference From Exome Reads)
CoNIFER uses exome sequencing data to find copy number variants (CNVs) and genotype the copy-number of duplicated genes. -
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An analysis pipeline for mining exome-Seq and RNA-Seq data, focusing on quality control, SNP identification and annotation, RNA quantification, differentially expressed genes analysis, eqtl, and pathway analysis. http://seqgene.sourceforge.net
