Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes.

Heming WeiAngeline LaiEe Shien TanMark Koh Jean AanIvy NgTeck Wah TingTerrence ThomasBreana ChamJiin Ying LimSylvia KamChew Yin Jasmine GohGrace LinMaggie BrettDerrick ChanSaumya Shekhar JamuarEne Choo Tan

Published in: Archives of disease in childhood (2020)

The 40.3% positive yield compares favourably with similar studies using either this panel or whole exome sequencing, demonstrating that large gene panels could be a good alternative to whole exome sequencing for quick genetic confirmation of Mendelian disorders.

Keyphrases

genome wide
copy number
end stage renal disease
ejection fraction
chronic kidney disease
single cell
dna methylation
peritoneal dialysis
genome wide identification
patient reported outcomes
genome wide analysis
patient reported