Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects.

Nicole A Saacks James M Eales Timothy F Spracklen Thomas Aldersley Paul Human Mark Verryn John Lawrenson Blanche CupidoGeorge ComitisRik De DeckerBarend FourieLenise SwansonAlexia Joachim Andre Brooks Rajkumar Ramesar Gasnat Shaboodien Bernard D KeavneyLiesl J Zühlke

Published in: Circulation. Genomic and precision medicine (2022)

In this study, we show that chromosomal microarray is an effective technique for identifying CNVs in African patients diagnosed with CHD and have demonstrated results similar to previous CHD genetic studies in Europeans. Novel potential CHD genes were also identified, indicating the value of genetic studies of CHD in ancestrally diverse populations.

Keyphrases

copy number
genome wide
mitochondrial dna
end stage renal disease
dna methylation
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
case control
gene expression
patient reported outcomes
climate change
patient reported