LOVD

LOVD collects and displays gene-centered DNA sequence variations to support locus-specific databases (LSDBs) and the storage of gene sequence variation associated with human phenotypes.

Key Features:

• Platform: Platform-independent, web-based LSDB-in-a-Box implementation for locus-specific databases.
• Multi-gene patient records: Stores sequence variants across multiple genes for individual patients.
• Relational schema: Uses separate relational tables for patient data and sequence variant information linked to associate variants with patients.
• Dynamic structure: Dynamic database structure optimized for rapid queries and to accommodate high-throughput sequencing data.
• Customizable schema: Allows addition of custom columns to extend the database schema for specific research needs.
• Variant nomenclature: Adheres to Human Genome Variation Society (HGVS) recommendations for variant description.
• Security: Implements security measures to protect against unauthorized access to sensitive patient data.

Scientific Applications:

• LSDB curation: Population and maintenance of locus-specific databases (LSDBs) for gene-centered variant curation.
• Genotype–phenotype data storage: Storage and retrieval of gene sequence variation associated with human phenotypes for research and clinical interpretation.
• High-throughput sequencing support: Management and integration of high-throughput sequencing variant data.
• Example deployment: Applied to an X-chromosomal Mental Retardation LOVD installation to manage variants and patient records.
• Standardization and interoperability: Supports LSDB standardization and interoperability across installations.

Methodology:

Relational database with separate linked patient and sequence-variant tables, a dynamic and customizable schema supporting custom columns, web-based platform-independent deployment, and variant representation following HGVS recommendations.