The Phenotype-Genotype Reference Map: Improving biobank data science through replication.
Lisa A. Bastarache, Sarah Delozier, Anita Pandit, Jing He, Adam J. Lewis, Aubrey C. Annis, Jonathon LeFaive, Joshua C. Denny, Robert J. Carroll, Russ Biagio Altman, Jacob Hughey, Matthew Zawistowski, Josh F. Peterson
The paper introduces a phenotype-genotype reference map for replicating GWAS results in biobank data and demonstrates its utility in detecting data corruption and assessing reproducibility.
The American Journal of Human Genetics · Aug 21, 2023Peer-reviewedGenetics