Introduction

Genomic mosaicism arising from postzygotic mutations has long been associated with cancer and more recently with non-cancer diseases. It has also been detected in healthy individuals including healthy parents of children affected with genetic disorders, highlighting its critical role in the origin of genetic mutations. However, most existing software for the genome-wide identification of single-nucleotide mosaicisms (SNMs) requires a paired control tissue obtained from the same individual which is often unavailable for non-cancer individuals and sometimes missing in cancer studies. Here, we present MosaicHunter (http://mosaichunter.cbi.pku.edu.cn), a bioinformatics tool that can identify SNMs in whole-genome and whole-exome sequencing data of unpaired samples without matched controls using Bayesian genotypers. We evaluate the accuracy of MosaicHunter on both simulated and real data and demonstrate that it has improved performance compared with other somatic mutation callers. We further demonstrate that incorporating sequencing data of the parents can be an effective approach to significantly improve the accuracy of detecting SNMs in an individual when a matched control sample is unavailable. Finally, MosaicHunter also has a paired mode that can take advantage of matched control samples when available, making it a useful tool for detecting SNMs in both non-cancer and cancer studies.

Publications

  1. MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.
    Cite this
    Huang AY, Zhang Z, Ye AY, Dou Y, Yan L, Yang X, Zhang Y, Wei L, 2017-06-01 - Nucleic acids research

Credits

  1. August Yue Huang
    Developer

    National Institute of Biological Sciences, Beijing 102206

  2. Zheng Zhang
    Developer

    School of Life Sciences, Tsinghua-Peking Joint Center for Life Sciences

  3. Adam Yongxin Ye
    Developer

    Academy for Advanced Interdisciplinary Studies, Peking University

  4. Yanmei Dou
    Developer

    National Institute of Biological Sciences, Beijing 102206

  5. Linlin Yan
    Developer

    Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research

  6. Xiaoxu Yang
    Developer

    Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research

  7. Yuehua Zhang
    Developer

    Peking University First Hospital, Peking University

  8. Liping Wei
    Investigator

    Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research

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Summary
AccessionBT000253
Tool TypeApplication
Category
PlatformsLinux/Unix
Technologies
User InterfaceTerminal Command Line
Download Count0
Submitted ByLiping Wei