Whole-genome sequencing of patients with rare diseases in a national health system
Mendelian inheritance
Personal genomics
Rare disease
Etiology
DOI:
10.1530/ey.18.14.6
Publication Date:
2021-09-22T02:14:57Z
AUTHORS (62)
ABSTRACT
The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease national health system to streamline diagnosis and discover unknown aetiological variants the coding non-coding regions of genome. WGS identified genetic 1138/7065 extensively phenotyped participants. They 95 genes which mutations were very likely be cause Mendelian disease.
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