Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment? - Mattia C. F. Prosperi; Sarah L. Ingham; Anthony Howell; Fiona Lalloo; Iain E. Buchan; Dafydd Gareth Evans (BMC Medical Informatics Decis. Mak., 2014)

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)