GIAB Pilot Study: Establishing High-Confidence Genomic Benchmarks
· 12 min read
The Genome in a Bottle (GIAB) Consortium has become the gold standard for variant calling benchmarking in clinical and research genomics. While many bioinformaticians routinely use GIAB reference materials to validate pipelines and assess variant caller performance, fewer understand the rigorous methodological framework underlying these benchmarks. This review examines the foundational 2014 pilot study by Zook et al., which established the technical infrastructure and integration strategies that continue to guide reference material development today.