AnnoQ

AnnoQ provides large-scale functional annotation of human genetic variants by integrating pre-annotated HRC variants with sequence-feature annotations from WGSA and functional annotations from Gene Ontology (GO) and PANTHER pathways.

Key Features:

• Extensive Annotation Database: Contains approximately 39 million human genetic variants from the Haplotype Reference Consortium (HRC) pre-annotated with sequence-feature annotations derived from the WGSA framework and functional annotations linked to Gene Ontology (GO) terms and PANTHER pathways.
• Search and Indexing: Employs an optimized Elasticsearch framework to enable real-time complex queries against the annotation database.
• Programmatic Access: Exposes an Application Programming Interface (API) and provides an R package for scripted annotation queries and integration into analysis workflows.

Scientific Applications:

• Genomics: Supports interpretation of variant function in genomic studies by providing sequence-feature and ontology-linked annotations.
• Personalized medicine: Aids assessment of functional consequences of variants relevant to clinical and translational research.
• Genetic epidemiology: Facilitates large-scale variant annotation for population and association studies.

Methodology:

Integrates ~39 million HRC variants pre-annotated with WGSA-derived sequence-feature annotations and linked GO and PANTHER functional annotations, and indexes these annotations using Elasticsearch for real-time querying.