PedMiner

PedMiner performs linkage analysis and variant annotation to identify disease-associated genetic variants from family-based whole-exome sequencing (WES) data for studies of Mendelian inherited disorders, including autosomal recessive inheritance.

Key Features:

• Linkage Analysis: Performs linkage analysis on family-based whole-exome sequencing (WES) data.
• Integration of Analyses: Integrates linkage analysis with variant annotation and prioritization into an automated pipeline.
• Variant and Gene Annotation: Provides detailed annotation of variants and genes within linked genomic regions.
• Visualization of Linked Regions: Generates graphical visualization of linked genomic regions to support interpretation of linkage results.
• Default Filtration Process: Applies a default filtration process to prioritize candidate variants from WES datasets.
• Inheritance Model Support: Tailored for analyses under an autosomal recessive inheritance pattern.

Scientific Applications:

• Mendelian disease gene discovery: Identification of candidate disease-causing variants in studies of Mendelian inherited disorders using family-based WES.
• Autosomal recessive studies: Detection and prioritization of variants consistent with autosomal recessive inheritance.
• Candidate variant prioritization: Reduction of candidate variant lists from complex family WES datasets for downstream investigation.
• Support for functional follow-up: Provision of annotated variants and genes to inform subsequent functional analyses.

Methodology:

Performs linkage analysis on family-based WES data; integrates linkage results with variant annotation and prioritization in an automated pipeline; generates graphical visualizations of linked genomic regions; annotates variants and genes within linked regions; applies a default filtration process to prioritize candidate variants.