MyVariant.info

MyVariant.info provides programmatic querying and retrieval of aggregated annotations for human genetic variants to support variant interpretation and genomic analyses.

Key Features:

• REST Web Services: Exposes RESTful web services to query and retrieve detailed annotation data for human genetic variants.
• High Performance: Provides high-performance querying to deliver rapid responses over large-scale variant annotation datasets.
• Cloud-Based Architecture: Uses a scalable cloud-based architecture to organize, manage, and query biological annotation information.

Scientific Applications:

• Variant Annotation: Provides essential annotations for genes and human genetic variants to support variant interpretation.
• Genomic Association Studies: Supplies consolidated variant annotations useful for genomic association studies.
• Personalized Medicine: Supports variant interpretation workflows relevant to personalized medicine.
• Genetic Contribution to Disease: Enables analysis of genetic contributions to disease by consolidating variant evidence.

Methodology:

Aggregates annotations from multiple established databases and serves them via RESTful web services on a cloud-based infrastructure to support high-performance querying of large datasets.