WEScover

WEScover provides assessment of exon and gene coverage across population-scale whole exome sequencing (WES) datasets to identify incomplete coverage that could cause false negatives in variant detection.

Key Features:

• Coverage quantification: Evaluates breadth and depth of exon and gene coverage across population-scale WES datasets.
• Search by phenotype, panel, or gene: Allows queries by phenotype, targeted gene panels, or individual genes to focus coverage analysis on relevant genomic regions.
• Integration with gnomAD metrics: Incorporates Genome Aggregation Database (gnomAD) coverage metrics to assess population-level coverage variability.
• Coverage-based recommendations: Identifies genes or exons with incomplete coverage and recommends consideration of targeted gene panel testing to reduce potential false negatives.

Scientific Applications:

• Diagnostic test selection: Guides selection between whole exome sequencing (WES) and targeted gene panel testing based on exon and gene coverage.
• False-negative identification: Highlights genomic regions at risk of false negatives due to insufficient coverage to inform variant interpretation.
• Population coverage assessment: Assesses coverage variability across populations using gnomAD-derived metrics for research and clinical validation.

Methodology:

Queries large-scale WES datasets to evaluate coverage of exons and genes linked to specific phenotypes or diseases and leverages gnomAD coverage metrics to characterize population-level coverage variability and identify inadequately covered regions.