A whole-genome sequencing approach shows early promise over current commercial methods for identifying more patients likely ...

Trios from 200 families who have lost a child to SUDC to be sequenced on PacBio’s Revio system with SPRQ-Nx chemistry, enabling increased diagnostic yield for grieving familiesMENLO PARK, Calif., Jan.

NIH funding has allowed scientists to see the DNA blueprints of human life—completely. In 2022, the Telomere-to-Telomere Consortium, a group of NIH-funded scientists from research institutions around ...

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 ...

Geneticist Dr. Robert Green is sequencing the DNA of healthy newborns to find hidden disease risks. This knowledge can save ...

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 ...

The collection of high-quality genomic DNA remains a major barrier in pediatric and neurodevelopmental research, particularly ...

A streamlined, automated process helps scientists coordinate site-ready production-level whole genome sequencing results.

Scientists and physicians can better assess precision genome editing technology using a new method made public today by St.