Whole-genome sequencing of patients with rare diseases in a national health system. - Ernest Turro; William J. Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; et al. (Nat., 2020)

Using de novo assembly to identify structural variation of eight complex immune system gene regions. - Jiayuan Zhang; Hannah Roberts; David S. C. Flores; Antony J. Cutler; Andrew C. Brown; Justin P. Whalley; Olga Mielczarek; David Buck; Helen Lockstone; Barbara Xella; Karen Oliver; Craig Corton; et al. (PLoS Comput. Biol., 2021)