| Literature DB >> 27401132 |
Brian J Knaus1, Niklaus J Grünwald1,2.
Abstract
Software to call single-nucleotide polymorphisms or related genetic variants has converged on the variant call format (VCF) as the output format of choice. This has created a need for tools to work with VCF files. While an increasing number of software exists to read VCF data, many only extract the genotypes without including the data associated with each genotype that describes its quality. We created the r package vcfr to address this issue. We developed a VCF file exploration tool implemented in the r language because r provides an interactive experience and an environment that is commonly used for genetic data analysis. Functions to read and write VCF files into r as well as functions to extract portions of the data and to plot summary statistics of the data are implemented. vcfr further provides the ability to visualize how various parameterizations of the data affect the results. Additional tools are included to integrate sequence (fasta) and annotation data (GFF) for visualization of genomic regions such as chromosomes. Conversion functions translate data from the vcfr data structure to formats used by other r genetics packages. Computationally intensive functions are implemented in C++ to improve performance. Use of these tools is intended to facilitate VCF data exploration, including intuitive methods for data quality control and easy export to other r packages for further analysis. vcfr thus provides essential, novel tools currently not available in r. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.Entities:
Keywords: data visualization; high-throughput sequencing; quality control; variant call format specification
Mesh:
Year: 2016 PMID: 27401132 DOI: 10.1111/1755-0998.12549
Source DB: PubMed Journal: Mol Ecol Resour ISSN: 1755-098X Impact factor: 7.090