R3: Enhancing Scientific Rigor, Reproducibility, and Report Talk series

Reference Materials and Benchmarks for Reproducible Genomics: Lessons from Genome in a Bottle

Speaker: Dr Justin Zook,
National Institute of Standards and Technology
Co-leader: Biomarker and Genomic Sciences Group and Genome in a Bottle Consortium

Date:        September 17, 2026
Time:        2:00-3:00pm
Location: Online
Open To:  Everyone (Registration form below) 

ABSTRACT: How do we know whether a genomic result is correct and reproducible? As genome sequencing technologies and analysis methods rapidly evolve, well-characterized reference materials and benchmark datasets provide a common foundation for understanding their strengths, limitations, and sources of disagreement. The NIST Genome in a Bottle Consortium brings together government, academic, and industry researchers to develop openly available reference materials, benchmark datasets, and benchmarking methods for human genome sequencing.

This talk will discuss lessons from Genome in a Bottle about designing and using benchmarks to improve rigor and reproducibility in genomics. It will highlight how complementary sequencing technologies and analysis methods can be integrated to establish high-confidence benchmarks, how benchmarking can reveal systematic errors and difficult regions of the genome, and why clearly defining what is and is not covered by a benchmark is essential for interpreting performance results. The talk will also discuss recent efforts to extend benchmarking toward increasingly complete genomes and more challenging applications, including cancer genomics, and remaining opportunities for improving reproducibility as genomic technologies continue to advance.