Ensembl Variant Effect Predictor

Ensembl Variant Effect Predictor annotates and predicts the functional consequences of genomic variants across coding and non-coding regions to support variant interpretation and prioritization.

Key Features:

• Variant types supported: Determines effects for single nucleotide polymorphisms (SNPs), insertions, deletions, copy number variations (CNVs), and structural variants.
• Impact on genomic elements: Assigns predicted impacts on genes, transcripts, protein sequences, and regulatory regions.
• Annotation sources: Leverages an extensive collection of genomic annotations to inform effect predictions.
• Analysis scope: Performs annotation and analysis across both coding and non‑coding regions of the genome.
• Reproducibility: Emphasizes reproducible analyses to enable consistent results across studies.

Scientific Applications:

• Functional consequence annotation: Elucidates functional consequences of genetic variation at gene, transcript, protein, and regulatory levels.
• Variant prioritization: Prioritizes variants based on predicted impacts and potential biological significance.
• Disease and phenotype studies: Supports interpretation of variants in health- and disease-related genomics research.
• General research designs: Applicable to a range of study designs aimed at understanding variant effects.

Methodology:

Uses genomic annotations to assign effects on genes, transcripts, protein sequences, and regulatory regions and produces annotations for analysis and prioritization with an emphasis on reproducibility.