GoFCards

GoFCards integrates manually curated and predicted gain-of-function variants in humans with a proprietary scoring system to prioritize variants and provide comprehensive annotations for genetic research and clinical interpretation.

Key Features:

• Curated Variant Database: GoFCards contains 3089 single-nucleotide variants and 72 insertions and deletions in 579 genes associated with 1299 diseases from 2069 studies.
• Predicted Variant Integration: GoFCards integrates 3.5 million predicted gain-of-function variants with curated data.
• Proprietary Scoring System: GoFCards prioritizes gain-of-function variants based on evidence supporting their gain-of-function effects and provides predictive scores for undocumented variants.
• Comprehensive Annotations: GoFCards provides variant-level and gene-level annotations from more than 150 sources.
• Genetic Data Analysis: GoFCards enables analysis and annotation of user genetic data with gain-of-function variant prioritization.

Scientific Applications:

• Disease Mechanism Research: GoFCards supports understanding of disease mechanisms through identification and analysis of pathogenic gain-of-function variants.
• Variant Prioritization: GoFCards enables prioritization of genetic variants associated with diseases for clinical and research purposes.
• Genetic Data Interpretation: GoFCards facilitates interpretation of gain-of-function variants in user-provided genetic data.

Methodology:

GoFCards was developed through manual literature review to identify gain-of-function variants, integration with predicted variants, and implementation of a proprietary scoring system for variant prioritization.