This undated photo shows Scarlet Hill, 7, of Eden, with Dr. Joshua Bonkowsky of University of Utah Health and Intermountain Primary Children’s Hospital. More than 7,000 genetic diseases have been ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...

Roche has put forward a new approach to genetic analysis, which it describes as sequencing-by-expansion—a proprietary method that pulls apart the DNA molecule and amplifies the signal of each ...

Newborn babies admitted to the hospital's neonatal intensive care unit (NICU) rely on the quick decisions and rapid action of the medical team responsible for them. DNA testing is critical to ...

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 ...