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Insane in the vembrane: filtering and transforming VCF/BCF files

SUMMARY: We present vembrane as a command line variant call format (VCF)/binary call format (BCF) filtering tool that consolidates and extends the filtering functionality of previous software to meet any imaginable filtering use case. Vembrane exposes the VCF/BCF file type specification and its inof...

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Autores principales: Hartmann, Till, Schröder, Christopher, Kuthe, Elias, Lähnemann, David, Köster, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825764/
https://www.ncbi.nlm.nih.gov/pubmed/36519840
http://dx.doi.org/10.1093/bioinformatics/btac810
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author Hartmann, Till
Schröder, Christopher
Kuthe, Elias
Lähnemann, David
Köster, Johannes
author_facet Hartmann, Till
Schröder, Christopher
Kuthe, Elias
Lähnemann, David
Köster, Johannes
author_sort Hartmann, Till
collection PubMed
description SUMMARY: We present vembrane as a command line variant call format (VCF)/binary call format (BCF) filtering tool that consolidates and extends the filtering functionality of previous software to meet any imaginable filtering use case. Vembrane exposes the VCF/BCF file type specification and its inofficial extensions by the annotation tools VEP and SnpEff as Python data structures. vembrane filter enables filtration by Python expressions, requiring only basic knowledge of the Python programming language. vembrane table allows users to generate tables from subsets of annotations or functions thereof. Finally, it is fast, by using pysam and relying on lazy evaluation. AVAILABILITY AND IMPLEMENTATION: Source code and installation instructions are available at github.com/vembrane/vembrane (doi: 10.5281/zenodo.7003981). SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling pubmed-98257642023-01-10 Insane in the vembrane: filtering and transforming VCF/BCF files Hartmann, Till Schröder, Christopher Kuthe, Elias Lähnemann, David Köster, Johannes Bioinformatics Applications Note SUMMARY: We present vembrane as a command line variant call format (VCF)/binary call format (BCF) filtering tool that consolidates and extends the filtering functionality of previous software to meet any imaginable filtering use case. Vembrane exposes the VCF/BCF file type specification and its inofficial extensions by the annotation tools VEP and SnpEff as Python data structures. vembrane filter enables filtration by Python expressions, requiring only basic knowledge of the Python programming language. vembrane table allows users to generate tables from subsets of annotations or functions thereof. Finally, it is fast, by using pysam and relying on lazy evaluation. AVAILABILITY AND IMPLEMENTATION: Source code and installation instructions are available at github.com/vembrane/vembrane (doi: 10.5281/zenodo.7003981). SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Oxford University Press 2022-12-15 /pmc/articles/PMC9825764/ /pubmed/36519840 http://dx.doi.org/10.1093/bioinformatics/btac810 Text en © The Author(s) 2022. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Hartmann, Till
Schröder, Christopher
Kuthe, Elias
Lähnemann, David
Köster, Johannes
Insane in the vembrane: filtering and transforming VCF/BCF files
title Insane in the vembrane: filtering and transforming VCF/BCF files
title_full Insane in the vembrane: filtering and transforming VCF/BCF files
title_fullStr Insane in the vembrane: filtering and transforming VCF/BCF files
title_full_unstemmed Insane in the vembrane: filtering and transforming VCF/BCF files
title_short Insane in the vembrane: filtering and transforming VCF/BCF files
title_sort insane in the vembrane: filtering and transforming vcf/bcf files
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825764/
https://www.ncbi.nlm.nih.gov/pubmed/36519840
http://dx.doi.org/10.1093/bioinformatics/btac810
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