Protocols

MosaicHunter specifications

Information


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
Requirements
UCSC blat
Maintained Yes

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Versioning


No version available

Documentation


Maintainer


  • 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

 (2)
call_split

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

2017
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, ) […]

call_split

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

2014
Cell Res
PMCID: 4220156
PMID: 25312340
DOI: 10.1038/cr.2014.131
call_split See protocol

[…] cbi.nlm.nih.gov/sra/) under accession number SRP028833.We made the scripts which implemented the Bayesian-based mosaic genotyper and error filters publicly available at https://github.com/AugustHuang/MosaicHunter. 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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