Whole-genome sequencing of patients with rare diseases in a national health system

Nature
Volume 583 Issue 7814, 2 July 2020
http://www.nature.com/nature/current_issue.html

 

Article | 24 June 2020
Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.
Ernest Turro, William J. Astle[…] & Willem H. Ouwehand