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)

DetectIS: a pipeline to rapidly detect exogenous DNA integration sites using DNA or RNA paired-end sequencing data. - Luigi Grassi; Claire L. Harris; Jie Zhu; Colin Hardman; Diane Hatton (Bioinform., 2021)