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 ...

For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to ...

Students take samples of water and the microscopic creatures within at the Alviso Marina County Park. (Image by Erika Cardema) At the Alviso Marina County Park, reddish-brown water laps at the edge of ...

The newest DNA sequencing technology from Swiss multinational Roche doesn’t measure DNA directly but in fact analyzes a different polymer altogether. The technology is not yet available for sale, but ...

Much like software and data analytics reshaped industries like finance and retail, a similar transformation is now creating a new landscape for investors in medicine. Genomics stands at the forefront ...

Whole genome analysis plays a critical role in the development of life-saving diagnostics, therapeutics, and vaccines, with growing interest in noncoding regions and Whole genome analysis plays a ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

When it comes to finding answers, every moment counts—especially in critical care settings like the neonatal and pediatric intensive care units (NICU and PICU). Although rapid genetic tests, whether ...

BURBANK, Calif. (KABC) -- Cancer is not a welcome diagnosis, but breakthroughs in genetic sequencing and immunotherapy are making some cancers easier to treat than others. A local father and ...

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 ...