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)

Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome. - Sara Cuvertino; Terence Garner; Evgenii Martirosian; Bridgious Walusimbi; Susan J. Kimber; Siddharth Banka; Adam Stevens (Briefings Bioinform., 2024)