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 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 ...

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 ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...

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 ...

If you liked this story, share it with other people. Tyler Kartzinel likens protecting biodiversity to enhancing cellphone networks. His analogy is pretty straightforward: look for gaps in coverage, ...

Johan Strömqvist, PhD, has always been interested in “seeing” molecules, particularly in three dimensions (3D). Strömqvist worked with optical single-molecule imaging for his PhD and then founded a ...

Study shows that rare variants captured by Illumina WGS with DRAGEN™ variant calling explain most of the "missing heritability" in complex human diseases and traits, including those related to blood ...