NGSrich

NGSrich evaluates target enrichment performance in next-generation sequencing by analyzing target regions specified in BED format to provide performance metrics for genomic studies.

Key Features:

• Performance Evaluation: Assesses efficiency and effectiveness of target enrichment on predefined genome segments specified in BED format using second-generation sequencing technologies.
• Detailed Reporting: Generates summary statistics that encapsulate enrichment performance metrics across assays and samples.
• Visualization Capabilities: Produces visual representations of coverage and enrichment outcomes to aid interpretation.

Scientific Applications:

• Whole-exome resequencing: Evaluates and compares exome enrichment performance in whole-exome resequencing projects.
• Enrichment product comparison and protocol optimization: Enables comparative analyses of different enrichment products and supports optimization of sequencing protocols for specific laboratory conditions and sample types.

Methodology:

Tested on exome-enriched DNA libraries from 18 human individuals as part of a whole-exome resequencing pipeline.