Nearly every cell in the human body—from the ones in the fingernails to the ones deep inside the brain—contains a complete set of DNA, the operating instructions that influence everything from a ...

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 ...

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 ...