In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...

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 ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

In a single experiment, scientists can decipher the entire genomes of many patient samples, animal models, or cultured cells.

Breakthroughs, discoveries, and DIY tips sent six days a week. Terms of Service and Privacy Policy. In 1976, workers excavating a tunnel for the Toronto subway system ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

In a breakthrough that redefines both speed and clinical potential, a new world record for the fastest human whole genome sequencing has been set. Think of all the things that can be done in four ...

High-throughput sequencing relies on mechanical and enzymatic techniques to break apart DNA into fragments in a consistent and reliable manner. However, traditional approaches tend to favor DNA ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

NASA is not often known for making the best use of existing COTS (commercial off the shelf technology) aboard the ISS. Then again, sometimes they are. This is an example of when the agency really ...

The Epstein-Barr virus (EBV) can cause certain types of cancer or autoimmune diseases, but how the body controls this common viral infection is largely unknown. Researchers at the University Hospital ...