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

Abstract

The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenotyped participants. They identified 95 genes in which mutations were very likely to be the cause of a rare Mendelian disease.