Whole-genome sequencing of patients with rare diseases in a national health system
国家卫生系统中罕见病患者的全基因组测序
期刊:Nature
影响因子:50.5
doi:10.1038/s41586-020-2434-2
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, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V V Deevi, Timothy J Aitman, David L Bennett,