The whole genome sequencing analytic platform developed by CUHK Medicine shows the potential advantage in identifying genetic etiologies in human diseases attributed to chromosomal disorders, pathogenic copy number variants or monogenic disorders such as Duchenne muscular dystrophy. The throughput is as high as 48 samples per run.

Abstract

Our Department of Obstetrics and Gynaecology is the first in Hong Kong and Asia-Pacific region to introduce the Whole Genome Sequencing for prenatal invasive genetic diagnosis. It offers enhanced sensitivity and accuracy of diagnosing lethal and severe congenital disorders through precise detection of pathogens in the fetus. The new technique is able to provide additional diagnostic information in 1.7% (17/1,023) of cases, compared with the current practice fetal DNA chip testing.

The findings were published in the international journal Genetics in Medicine.

Details: http://bit.ly/2lThbYI