Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system
Josiah T. Wagner, John T. Welle, Isabelle Lucas Beckett, Kate R. Emery, Benjamin A. Cosgrove, Krzysztof Olszewski, Nick Wagner, Tucker C. Bower, Li Chi Yuan, Eric M. Shull, Kathleen Jade, Jon Clemens, Andrew T. Magis, Mary B. Campbell, Ora Karp Gordon, , Brian Piening
The paper develops and validates a clinical whole genome sequencing assay for heritable disease and pharmacogenomics testing, showing high sensitivity, specificity, and accuracy in a large cohort.
Frontiers in Molecular Biosciences · Oct 13, 2025Peer-reviewedGenetic & Genomic Medicine