dauss75 / msisensor-pro

Microsatellite Instability (MSI) detection using high-throughput sequencing data.

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General introduction

MSIsensor-pro is an updated version of msisensor. MSIsensor-pro evaluates Microsatellite Instability (MSI) for cancer patients with next generation sequencing data. It accepts the whole genome sequencing, whole exome sequencing and target region (panel) sequencing data as input. MSIsensor-pro introduces a multinomial distribution model to quantify polymerase slippages for each tumor sample and a discriminative sites selection method to enable MSI detection without matched normal samples. For samples of various sequencing depths and tumor purities, MSIsensor-pro significantly outperformed the current leading methods in terms of both accuracy and computational cost. If you want to know more detail about MSIsensor-pro, please see the MSIsensor-pro Schematics and Internals page.

Scopes of MSIsensor-pro

MSIsensor-pro evaluates MSI status of a given sample with next generation sequencing (NGS) data. If you have normal-tumor paired DNA sequences, you can use msi (inherited from msisensor) module to score MSI status while pro module would be the option if matched normal is not available.

How to install MSIsensor-pro?

  conda install msisensor-pro

( Recommended For Developers )

Install the dependencies

Dependent packages including zlib, ncurses and nurses-dev are required for MSIsensor-pro. You may already have these prerequisite packages. If not, you need to run the following code to obtain dependent packages.

  • For Debian or Ubuntu:

    sudo apt-get install zlib1g-dev libncurses5-dev libncursesw5-dev
    
  • For Fedora, CentOS or RHEL

    sudo yum install zlib-devel ncurses-devel ncurses
    

Build MSIsensor-pro from source code

  • colne the repository from our github

    git clone https://github.com/xjtu-omics/msisensor-pro
    
  • make

    cd msisensor-pro/cpp
    make
    
  • install

    sudo mv msisensor-pro /usr/local/bin/
    

How to use MSI ?

Usage:

  msisensor-pro <command> [options]

Key Commands:

  • scan

    scan the reference genome to get microsatellites information
    
  • baseline

     build baseline for tumor only detection
    
  • msi

     evaluate MSI using paired tumor-normal sequencing data
    
  • pro

     evaluate MSI using single (tumor) sample sequencing data 
    

See more detail in the Key Commands page and Best Practices page.

Files format

see detail in the Files format page

Citation

Peng Jia, Xiaofei Yang, Li Guo, Bowen Liu, Jiadong Lin, Hao Liang, et al. MSIsensor-pro: fast, accurate, and matched-normal-sample-free detection of microsatellite instability. Genomics Proteomics Bioinformatics 2020,18(1). PDF

Contact

If you have any questions, please contact with Peng Jia (pengjia@stu.xjtu.edu.cn) or Kai Ye (kaiye@xjtu.edu.cn).

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Microsatellite Instability (MSI) detection using high-throughput sequencing data.

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