FAVOR

FAVOR provides comprehensive functional annotations for single-nucleotide variants to support interpretation and prioritization of whole-genome sequencing (WGS) data.

Key Features:

• Comprehensive Variant Annotation: Provides functional annotations for all possible nine billion single nucleotide variants (SNVs) across the human genome.
• Rapid Query Capabilities: Supports rapid queries at the variant-, gene-, and region-levels to retrieve functional annotations.
• Integration of Multiple Data Sources: Aggregates and synthesizes functional information from multiple sources to produce unified variant annotations.
• Scalable Annotation Tool (FAVORannotator): Functionally annotates large-scale WGS datasets and stores genotype data alongside functional annotations in an annotated Genomic Data Structure (aGDS) format.

Scientific Applications:

• Disease- and Trait-Associated Variant Discovery: Enables identification of disease- or trait-associated variants within large biobank-scale WGS datasets.
• Variant Prioritization for Causal Inference: Aids prioritization of plausible causal variants by providing detailed functional annotations.

Methodology:

Aggregation and synthesis of variant functional data from multiple sources into a unified resource, with integration of FAVORannotator for efficient annotation and storage of large-scale WGS data in aGDS format.