• Development and validation of a universal blood donor genotyping platform: A multinational prospective study 

      Gleadall, Nicholas S.; Veldhuisen, Barbera; Gollub, Jeremy; Butterworth, Adam S.; Ord, John; Penkett, Christopher J.; Timmer, Tiffany C.; Sauer, Carolin M.; Van Der Bolt, Nieke; Brown, Colin; Brügger, Kim; Dilthey, Alexander T.; Duarte, Daniel; Grimsley, Shane; Van Den Hurk, Katja; Jongerius, John M.; Luken, Jessie; Megy, Karyn; Miflin, Gail; Nelson, Christopher S.; Prinsze, Femmeke J.; Sambrook, Jennifer; Simeoni, Ilenia; Sweeting, Michael; Thornton, Nicole; Trompeter, Sara; Tuna, Salih; Varma, Ram; Walker, Matthew R.; Danesh, John; Roberts, David J.; Ouwehand, Willem H.; Stirrups, Kathleen E.; Rendon, Augusto; Westhoff, Connie M.; Di Angelantonio, Emanuele; van der Schoot, C. Ellen; Astle, William J.; Watkins, Nicholas A.; Lane, William J. (Journal article; Peer reviewed, 2020)
      Each year, blood transfusions save millions of lives. However, under current blood-matching practices, sensitization to non–self-antigens is an unavoidable adverse side effect of transfusion. We describe a universal donor ...
    • One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants 

      Gutowska-Ding, Maria Weronika; Deans, Zandra C.; Roos, Christophe; Matilainen, Jukka; Khawaja, Farrah; Brügger, Kim; Ahn, Jo Wook; Boustred, Christopher; Patton, Simon J. (Journal article; Peer reviewed, 2020)
      Next-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. ...