MaveQuest

MaveQuest provides a literature-curated resource to plan and prioritize Multiplex Assays of Variant Effect (MAVE) studies by linking human protein-coding genes to scalable functional assays, phenotype associations, and clinical relevance.

Key Features:

• Literature-curated database: Aggregates curated information on functional assays, phenotypes, and clinical interests for human gene variants extracted from the literature.
• Target gene identification: Identifies and prioritizes human protein-coding genes with clinical impact for selection as MAVE targets.
• Functional assay selection: Maps scalable functional assays to selected gene targets to inform experimental designs for variant effect testing.
• Disease phenotype correlation: Links specific gene variants to potential disease phenotypes to support interpretation of variant effects.
• Clinical relevance assessment: Associates variant and gene-level information with clinical relevance to prioritize variants for further study.

Scientific Applications:

• Genetic research: Facilitates comprehensive variant effect mapping to identify and characterize pathogenic variants in human genes.
• Drug development: Supports discovery of potential therapeutic targets by linking gene variants and functional assays to disease phenotypes.
• Clinical diagnostics: Assists development of assays and evidence to classify genetic variants based on functional impact for diagnostic use.

Methodology:

Integrates literature-curated data on functional assays, phenotypes, and clinical annotations to link gene targets with scalable assays and phenotype correlations.