Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

Min-Jee KimMi-Sun YumGo Hun SeoYena LeeHan Na JangTae-Sung KoBeom-Hee Lee

Published in: Journal of clinical medicine (2020)

The early application of WES helps in the identification of extremely rare genetic diseases, for which effective treatment modalities exist. Ultimately, WES resulted in optimal clinical outcomes of affected patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
genome wide
replacement therapy
bioinformatics analysis
smoking cessation