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)

VALERIE: Visual-based inspection of alternative splicing events at single-cell resolution. - Wei Xiong Wen; Adam J. Mead; Supat Thongjuea (PLoS Comput. Biol., 2020)