The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis. - Elise Ruark; Anthony Renwick; Matthew Clarke; Katie Snape; Emma Ramsay; Anna Elliott; Sandra Hanks; Ann Strydom; Sheila Seal; Nazneen Rahman (F1000Research, 2016)

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)