vcfanno

vcfanno annotates genetic variants by extracting and summarizing attributes from multiple annotation files and integrating them into the INFO field of Variant Call Format (VCF) files for genetic analyses.

Key Features:

• Flexible annotation: Extracts and summarizes attributes from multiple annotation files.
• VCF INFO integration: Integrates annotations directly into the INFO column of VCF files.
• Parallel chromosome-sweeping algorithm: Employs a parallel "chromosome sweeping" algorithm to accelerate interval matching and annotation.
• Performance: Annotates approximately 85,000 variants per second with up to 50 attributes from 17 commonly used genome annotation resources.
• Support for diverse file formats: Accepts and combines genome annotations from diverse file formats and multiple annotation sources.

Scientific Applications:

• Disease variant identification: Identifying genetic variants relevant to disease studies and other traits.
• Comprehensive variant interpretation: Combining multiple annotation sources to produce comprehensive variant annotations for interpretation.
• Large-scale genomic studies: Enabling annotation at scale for large cohorts and population studies.

Methodology:

vcfanno uses a parallel "chromosome sweeping" algorithm to extract and summarize attributes from multiple annotation files and insert those annotations into the INFO column of VCF files.