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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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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. |
format | Online Article Text |
id | pubmed-9825764 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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