BioConductor wrapper for Ensembl VEP

BioConductor wrapper for Ensembl VEP enables analysis, annotation, and prioritization of genomic variants across coding and non-coding regions, providing access to Ensembl genomic annotations for variant interpretation.

Key Features:

• Variant analysis and annotation: Performs analysis, annotation, and prioritization of genomic variants across coding and non-coding regions.
• Genomic annotations access: Provides comprehensive access to Ensembl genomic annotations for variant interpretation.
• Reproducibility: Supports full reproducibility of results for variant annotation workflows.
• Configurability and extensibility: Allows configuration and extension of analyses to accommodate specific analysis requirements.
• Perl API integration: Integrates with the Ensembl Perl API for querying and manipulation of genomic data.

Scientific Applications:

• Basic research variant interpretation: Streamlines interpretation of genomic variants in basic research studies.
• Clinical variant prioritization: Supports variant prioritization workflows relevant to clinical applications.
• Reproducible annotation pipelines: Produces reproducible variant annotation outputs for downstream analyses and prioritization.

Methodology:

Performs analysis, annotation, and prioritization of genomic variants across coding and non-coding regions and integrates with the Ensembl Perl API for querying and manipulation of genomic data.