BCFtools/csq specifications

Information


Unique identifier OMICS_16100
Name BCFtools/csq
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages C, Perl
License GNU General Public License version 3.0
Computer skills Advanced
Version 1.3.1
Stability Stable
Maintained Yes

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Versioning


No version available

Documentation


Maintainer


  • person_outline Petr Danecek

Publication for BCFtools/csq

BCFtools/csq citation

library_books

BCFtools/csq: haplotype aware variant consequences

2017
Bioinformatics
PMCID: 5870570
PMID: 28205675
DOI: 10.1093/bioinformatics/btx100

[…] sequencing technologies () and the increased accuracy of statistical phasing algorithms (; ) due to the increased sample cohort sizes (). We present a new variant consequence predictor implemented in BCFtools/csq that can exploit this information. […]

BCFtools/csq institution(s)
Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK
BCFtools/csq funding source(s)
This work was supported by the Wellcome Trust (WT098051) and a grant co-funded by the Wellcome Trust and Medical Research Council (WT098503).

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