amplimap: a versatile tool to process and analyze targeted NGS data. - Nils Koelling; Marie Bernkopf; Eduardo Calpena; Geoffrey J. Maher; Kerry A. Miller; Hannah K. Ralph; Anne Goriely; Andrew O. M. Wilkie (Bioinform., 2020)

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)