Genetic & Genomic MedicineFrontiers in Molecular BiosciencesPeer-reviewed
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…·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.