The availability of whole-genome sequencing has changed the landscape when it comes to diagnosis of genetic diseases, making it possible to diagnose potential disease carriers and leading to improved disease management and provision of preventative services.  

But, even with today’s cutting-edge technology, genetic diseases are difficult to diagnose. “Less than 50 percent of diseases can be pinned down to the underlying molecular cause,” says Xin Gao, leader of KAUST’s Computational Bioscience Research Center. “We need to increase awareness and simplify the diagnostic process and the recognition of these diseases.” 

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