MSIsensor-pro: fast, accurate and matched-normal-sample-free detection of microsatellite instability

Jia, P.; Yang, X.; Guo, L.; Liu, B.; Lin, J.; Liang, H.; Sun, J.; Zhang, C.; Ye, K.

doi:10.1101/2020.01.08.899633

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bioRxiv · 10.1101/2020.01.08.899633

MSIsensor-pro: fast, accurate and matched-normal-sample-free detection of microsatellite instability

Jia, P.·Yang, X.·Guo, L.·Liu, B.·Lin, J.·Liang, H.·Sun, J.·Zhang, C.·Ye, K.

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Abstract

We developed MSIsensor-pro (https://github.com/xjtu-omics/msisensor-pro), an open-source single sample microsatellite instability (MSI) scoring method for research and clinical applications. 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.

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Jia, P., Yang, X., Guo, L., Liu, B., Lin, J., Liang, H., Sun, J., Zhang, C., Ye, K.. 2020-01-09. MSIsensor-pro: fast, accurate and matched-normal-sample-free detection of microsatellite instability. https://doi.org/10.1101/2020.01.08.899633

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