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Assessing the enrichment performance in targeted resequencing experiments.

Peter Frommolt¹, Ali T Abdallah, Janine Altmüller

¹Cologne Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, Universität zu Köln, Cologne, Germany. peter.frommolt@uni-koeln.de

|February 1, 2012

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We developed NGSrich, a novel software tool to analyze target enrichment performance in genomic sequencing. This tool helps assess DNA library preparation and offers comparative analysis for improved high-throughput sequencing results.

Area of Science:

Genomics
Bioinformatics

Background:

Target enrichment is crucial for sequencing specific genomic regions using next-generation sequencing (NGS).
Assay performance in target enrichment varies significantly due to technology, target sequences, and laboratory sample handling.

Purpose of the Study:

To introduce NGSrich, a novel software package for detailed analysis of target enrichment performance.
To provide a high-throughput, web-accessible tool for evaluating genomic enrichment assays.

Main Methods:

Development of the NGSrich software for analyzing target enrichment data.
Application of NGSrich to whole-exome resequencing data from 18 human individuals.
Comparative analysis of three different enrichment products using the developed software.

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Main Results:

NGSrich provides detailed insights into target enrichment performance.
The software is suitable for high-throughput analysis and results sharing via HTML and web server.
Comparative analysis revealed performance variations among different enrichment products.

Conclusions:

NGSrich is an effective tool for assessing and comparing target enrichment strategies in genomics.
The software facilitates high-throughput analysis and data sharing in a genomics center setting.
Understanding enrichment performance is key to optimizing genomic sequencing workflows.