MosaicHunter specifications


Unique identifier OMICS_17784
Name MosaicHunter
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Java
License MIT License
Computer skills Advanced
Version 1.0.0
Stability Stable
UCSC blat
Maintained Yes




No version available



  • person_outline Liping Wei

Additional information

Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China; National Institute of Biological Sciences, Beijing, China; School of Life Sciences, Tsinghua-Peking Joint Center for Life Sciences, Tsinghua University, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China; Peking University First Hospital, Peking University, Beijing, China

Publication for MosaicHunter

MosaicHunter citations


Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

Hum Mutat
PMCID: 5518181
PMID: 28503910
DOI: 10.1002/humu.23255
call_split See protocol

[…] The bioinformatics pipeline used to detect child pSNMs and de novo SNPs with detectable parental mosaicism is summarized in Supp. Figure S1. The detection scheme followed a MosaicHunter‐based pipeline as described previously (Huang et al., ; Huang et al., ). Sequence data from three centers were aligned against the GRCh37.p13 human reference genome by BWA (Li & Durbin, ) […]


Postzygotic single nucleotide mosaicisms in whole genome sequences of clinically unremarkable individuals

Cell Res
PMCID: 4220156
PMID: 25312340
DOI: 10.1038/cr.2014.131
call_split See protocol

[…] under accession number SRP028833.We made the scripts which implemented the Bayesian-based mosaic genotyper and error filters publicly available at The users can change the running order and the parameters of running the genotyper and the filters. […]

MosaicHunter institution(s)
Supported by the National Natural Science Foundation of China [31530092, 81171221]; Ministry of Science and Technology 863 Grant [2015AA020108]; Peking University Clinical Cooperation ‘985 Project’ [PKU-2014-1-1, PKU-2013-1-06].

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