Article

Whole-genome sequencing of rare disease patients in a national healthcare system

2019-01-01

Abstract excerpt

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and mediating genes for more than half such disorders remain to be discovered. We implemented whole-genome sequencing (WGS) in a national healthcare system to streamline diagnosis and to discover unknown aetiological variants, in the coding and non-coding regions of the genome. In a pilot study for the 100,000 Genom...

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Literature Corpus work: 174f1418-0eee-5b62-9483-8e9cf4ee1ef2
DOI: 10.1101/507244

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