High-quality benchmarking datasets are essential for improving NGS variant detection.

This publication examines the development of an expanded insertion/deletion (indel) benchmarking dataset through expert manual review of whole exome sequencing data from the FDA-led SEQC2 project. Learn how an enhanced reference dataset supports more accurate evaluation of bioinformatics pipelines and improves confidence in next-generation sequencing (NGS) variant detection.

Key topics include:

• Development of an expanded benchmarking indel dataset using expert manual review
• Evaluation of indel detection across a broad range of variant allele frequencies and genomic regions
• Common challenges in indel calling and strategies to improve bioinformatics pipeline performance
• Applications of benchmarking reference datasets for precision oncology, gene editing, and clinical NGS assay evaluation

As precision medicine continues to advance, robust benchmarking resources play a critical role in ensuring accurate, reproducible genomic analyses. Learn how expanded reference datasets can strengthen NGS pipeline validation and support more reliable variant detection across clinical and research applications.