U-M researchers awarded NIH Replication Prize for work to strengthen confidence in biobank-based discoveries
ANN ARBOR - Researchers from AI & Digital Health Innovation (AI&DHI) at the University of Michigan have been awarded the National Institutes of Health (NIH) Replication Prize for a collaborative project with Vanderbilt University designed to improve confidence in findings from biobank-based research.
Modern genetic studies increasingly rely on biobanks, such as the Michigan Genomics Initiative (MGI), which link electronic health records with genetic data. These resources offer enormous potential for identifying relationships between genetic variation and disease. However, because biobanks often reflect real-world clinical data, they can include selection biases, incomplete records and other data errors that raise the risk of false discoveries. Given this, how can researchers feel confident that their biobank-based study results are valid?
To address this challenge, investigators at U-M and Vanderbilt created the phenotype-genotype reference map, or PGRM, a curated set of “true positive” genetic associations drawn from the National Human Genome Research Institute and European Bioinformatics Institute GWAS Catalog. These known associations span 149 distinct diseases and are expected to replicate in biobanks with high-quality data and sound analytic methods.
“GRM provides researchers with a rigorous method to assess replicability of their biobank data and analytic methods as means to interpret their own results,” said Dr. Matthew Zawistowski, Clinical Associate Professor of Biostatistics in the School of Public Health and project lead for the University of Michigan team. “High replication of known PGRM signals provides confidence that novel findings are true biological discoveries rather than technical artifacts.”
The project brought together interdisciplinary teams at U-M and Vanderbilt to build and evaluate PGRM across multiple major biobanks, including MGI as well as Vanderbilt’s BioVU and the UK Biobank.
About the Replication Prize
The NIH Replication Prize was launched to recognize and reward progress in making key areas of biomedical research more replicable. It also aims to encourage a culture in which replication is treated as a standard and essential part of the scientific process.
The U-M team was recognized under the competition’s “Track 2: Replication Exemplars” category. According to the NIH, this track honors “pioneering researchers who have creatively and successfully integrated replication into their standard research practice,” with strategies that have demonstrated success in improving research rigor and strengthening trust in scientific outcomes.
Strategies from Track 2 awardees will be compiled and published as a publicly available NIH reference this summer. NIH expects the resource to have a lasting impact by helping researchers adopt proven approaches for improving replicability across biomedical science.
About AI & Digital Health Innovation
AI & Digital Health Innovation (formerly Precision Health at U-M) is dedicated to empowering researchers at the University Michigan to change the future of digital healthcare. They work with multi-disciplinary teams of health providers, basic scientists, engineers, and administrators to tackle the most difficult research problems and help rapidly bring ideas to the bedside. For more information visit aidhi.umich.edu.
About the Michigan Genomics Initiative (MGI)