Showing 4 open source projects for "exome"

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  • 1

    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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  • 2

    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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  • 3

    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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  • 4
    Onco-STS

    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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