Janina Krumbeck, PhD, discusses the clinical advantages of next-generation sequencing over traditional culture and how this untargeted diagnostic approach provides comprehensive pathogen ...

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 ...

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 ...

To understand more fully the role of RNA and its modifications in living systems, researchers will need robust, reproducible, and accessible tools and techniques capable of identifying all RNA ...

When the COVID-19 pandemic was at its peak, and multiple variants were threatening lives around the world, scientists relied on a process called "tiled amplicon sequencing" to track the virus's spread ...

Recognizing these inadequacies, in 2020, the American College of Medical Genetics and Genomics (ACMG) issued a statement that tumor sequencing should not be used as a substitute for germline analysis ...