One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...

In a development that could accelerate the discovery of new diagnostics and treatments, researchers have developed a versatile and low-cost technology for targeted sequencing of full-length RNA ...

There is a revolution taking place in the field of genomics. Next-generation sequencing (NGS) is getting faster and less expensive with better computational tools, enabling researchers to sequence ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...