• Implementation of individualised polygenic risk score analysis: a test case of a family of four 

      Corpas, Manuel; Megy, Karyn; Metastasio, Antonio; Lehmann, Edmund (BMC Medical Genomics, 2022)
      Background: Polygenic risk scores (PRS) have been widely applied in research studies, showing how population groups can be stratified into risk categories for many common conditions. As healthcare systems consider applying ...
    • Whole Genome Interpretation for a Family of Five 

      Corpas, Manuel ; Megy, Karyn; Mistry, Vanisha; Metastasio, Antonio; Lehmann, Edmund (Frontiers in Genetics, 2021)
      Although best practices have emerged on how to analyse and interpret personal genomes, the utility of whole genome screening remains underdeveloped. A large amount of information can be gathered from various types of ...