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 ...

Although it is an important technology for studying genomes, DNA sequencing was initially accomplished in 1977 by Frederick Sanger. Since its conception, the technology has developed rapidly. Alvaro G ...

Next-generation DNA sequencing (NGS) has transformed the way scientists understand genetics. With the ability to sequence DNA and RNA faster and cheaper than ever before, this technology is reshaping ...

Newborn babies admitted to the hospital's neonatal intensive care unit (NICU) rely on the quick decisions and rapid action of the medical team responsible for them. DNA testing is critical to ...

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 ...