In a recent study published in the Journal of American Medical Association (JAMA) Oncology, researchers from California investigated the diagnostic outcomes of concurrent sequencing of ...

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 ...

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

High-accuracy single-molecule unique molecular identifier sequencing reveals non-random, biologically driven mutation heterogeneity within influenza quasi-species, enabling precise profiling of ...

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 ...