A U.K. program—similar to one launched in New York last fall— will begin genome sequencing on 100,000 babies this year to figure out whether screening newborns for a wide range of conditions is ...

Many common pathogens are difficult or impossible to detect using conventional microbiological tests. However, the rapid and untargeted nature of metagenomic next-generation sequencing (mNGS) appears ...

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly ...

Early detection and diagnosis of inherited conditions in newborns and infants can lead to more effective therapies and better health outcomes Early detection and diagnosis of inherited conditions in ...

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying ...

The clinical utility of ultra-rapid genome sequencing (urGS) in neonatal and paediatric intensive care situations has been demonstrated, and barriers to its implementation in clinical practice studied ...

Infections by hantaviruses are rare but dangerous, killing 30–40% of infected people. When cases occur, public health officials need rapid, detailed information about the virus to identify the strain ...

Next-generation metagenomic sequencing test developed at UCSF proves its effectiveness in quickly diagnosing almost any kind of pathogen. A genomic test developed at UC San Francisco to rapidly detect ...

A new national study has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in ...

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left ...