Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Karen H Y WongMichal Levy-SakinWalfred MaNina GonzaludoAngel C Y MakDedeepya VakaAnnie PoonCatherine ChuRichard LaoMelek BalamirZoe GrenvilleNicolas WongJohn P KanePui-Yan KwokMary J MalloyClive R Pullinger

Published in: Molecular genetics & genomic medicine (2019)

While the application of WES can provide a cost-effective way of identifying the genetic causes of FH, it often lacks sensitivity for detecting structural variants. Our finding of the LDLR exon 1 deletion highlights the broader utility of Linked-Read WGS in detecting SVs in the clinical setting, especially when HoFH patients remain undiagnosed after WES.

Keyphrases

copy number
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
gene expression
single cell
data analysis