NGSrich protocols

NGSrich specifications

Information


Unique identifier OMICS_03603
Name NGSrich
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Java
License GNU General Public License version 3.0
Computer skills Advanced
Version 0.7.8
Stability Stable
Maintained Yes

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Maintainer


  • person_outline Peter Frommolt <>

Publication for NGSrich

NGSrich IN pipeline

2015
PMCID: 4518735
PMID: 25986071
DOI: 10.1136/jmedgenet-2014-102961

[…] using the genome analysis toolkit (http://www.broadinstitute.org/gatk/).15 by previously described criteria,16 17 the low-quality variations were filtered out., target enrichment was analysed using ngsrich.18 variants were filtered against 1000 genomes data, and all variants with a minor allele frequency (maf) >1% were removed from the analysis. functional annotation of genetic variants […]

NGSrich institution(s)
Cologne Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Universitat zu Koln, Cologne, Germany; Cologne Center for Genomics (CCG), Universitat zu Koln, Cologne, Germany; Klinik und Poliklinik fur Kinderheilkunde, Abteilung fur Padiatrische Onkologie und Hamatologie, Klinikum der Universitat zu Koln, Cologne, Germany; Zentrum fur Molekulare Medizin Koln (ZMMK), Universitat zu Koln, Cologne, Germany; Neurologische Klinik und Poliklinik, Klinikum GroƟhadern, Munchen, Germany
NGSrich funding source(s)
Supported by The Koln Fortune Program of the University of Cologne; 115/2010; The German Ministry for Education and Research (BMBF) and The German National Genome Research Network (NGFNplus).

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