VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants
نویسندگان
چکیده
UNLABELLED VariantAnnotation is an R / Bioconductor package for the exploration and annotation of genetic variants. Capabilities exist for reading, writing and filtering variant call format (VCF) files. VariantAnnotation allows ready access to additional R / Bioconductor facilities for advanced statistical analysis, data transformation, visualization and integration with diverse genomic resources. AVAILABILITY AND IMPLEMENTATION This package is implemented in R and available for download at the Bioconductor Web site (http://bioconductor.org/packages/2.13/bioc/html/VariantAnnotation.html). The package contains extensive help pages for individual functions and a 'vignette' outlining typical work flows; it is made available under the open source 'Artistic-2.0' license. Version 1.9.38 was used in this article.
منابع مشابه
motifbreakR: an R/Bioconductor package for predicting variant effects at transcription factor binding sites
UNLABELLED Functional annotation represents a key step toward the understanding and interpretation of germline and somatic variation as revealed by genome-wide association studies (GWAS) and The Cancer Genome Atlas (TCGA), respectively. GWAS have revealed numerous genetic risk variants residing in non-coding DNA associated with complex diseases. For sequences that lie within enhancers or promot...
متن کاملImplementation and Optimization of Annotation and Interpretation Step of Next-Generation Sequencing Data for Non-Syndromic Autosomal Recessive Hearing Loss
Introduction: The precision and time required for analysis of data in next-generation sequencing (NGS) depends on many factors including the tools utilized for alignment, variant calling, annotation and filtering of variants, personnel expertise in data analysis and interpretation, and computational capacity of the lab and its optimization is a challenging task. Method: An application software...
متن کاملC:\Documents and Settings\senthil.d\Desktop\Bioinfo-27(8)issue\btr102.dvi
Summary: The R453Plus1Toolbox is an R/Bioconductor package for the analysis of 454 Sequencing data. Projects generated with Roche’s data analysis software can be imported into R allowing advanced and customized analyses within the R/Bioconductor environment for sequencing data. Several methods were implemented extending the current functionality of Roche’s software. These extensions include met...
متن کاملgirafe – an R/Bioconductor package for functional exploration of aligned next-generation sequencing reads
UNLABELLED The R/Bioconductor package girafe facilitates the functional exploration of alignments of sequence reads from next-generation sequencing data to a genome. It allows users to investigate the genomic intervals together with the aligned reads and to work with, visualise and export these intervals. Moreover, the package operates within and extends the ever-growing Bioconductor framework ...
متن کاملImplementation and Optimization of Annotation and Interpretation Step of Next-Generation Sequencing Data for Non-Syndromic Autosomal Recessive Hearing Loss
Introduction: The precision and time required for analysis of data in next-generation sequencing (NGS) depends on many factors including the tools utilized for alignment, variant calling, annotation and filtering of variants, personnel expertise in data analysis and interpretation, and computational capacity of the lab and its optimization is a challenging task. Method: An application software...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Bioinformatics
دوره 30 14 شماره
صفحات -
تاریخ انتشار 2014