GoldVariants

GoldVariants facilitates sharing and curation of rare genetic variants associated with bleeding, thrombotic, and platelet disorders (BTPD) to support interpretation of high-throughput sequencing (HTS)-derived diagnostic-grade variants.

Key Features:

• Curated diagnostic-grade variants: Collects and curates diagnostic-grade genetic variants associated with BTPD with involvement from the Scientific and Standardization Committee for Genetics in Thrombosis and Haemostasis.
• HTS support: Captures variants identified through high-throughput sequencing (HTS) technologies used in research and diagnostic laboratories.
• Variant classification criteria: Integrates evidence-based criteria including variant consequence, frequency in control datasets, number of reported patients, prediction models, and functional assays for pathogenicity assessment.
• International dataset: Contains an initial set of 821 curated variants submitted from 30 centers across 14 countries.
• ClinVar data exchange: Performs regular bulk data transfer of variant records to ClinVar to contribute findings to broader variant databases.

Scientific Applications:

• Diagnostic advancements: Supports clinical interpretation of HTS-derived variants for more accurate diagnosis of BTPD.
• Research development: Enables studies of the genetic underpinnings of bleeding, thrombotic, and platelet disorders and exploration of potential therapeutic targets.
• Collaborative studies: Facilitates international collaboration and data sharing among researchers and clinicians focused on hemostatic disorders.

Methodology:

Integration of evidence-based criteria (variant consequence, frequency in control datasets, number of reported patients, prediction models, functional assays) and regular bulk data transfer of variant records to ClinVar.