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

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

Nature, Published online: 24 June 2020; doi:10.1038/s41586-020-2434-2

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.
Source: Nature