Article

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

2021-09-15

Abstract excerpt

Abstract Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13, 037 p...

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Literature Corpus work: 0263f684-606d-5bd6-9492-f210c7ae00f3
DOI: 10.1530/ey.18.14.6

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