Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...

For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to ...

Dozens of health systems representing millions of patients across the United States are collaborating with the Truveta Genome Project, Regeneron Genetics Center and genomic sequencing company Illumina ...

A Snakemake-based pipeline called Pipeasm automates key steps of genome assembly, from raw read trimming through scaffolding ...

PacBio (NASDAQ: PACB), a leading provider of high-quality, long-read sequencing technologies, today announced that Basecamp Research, a frontier AI lab for therapeutic design, has selected PacBio HiFi ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

By utilizing long-read sequencing, an emerging technique that reads large sections of the genome at once, scientists at UC San Diego have revealed new genetic variants associated with autism spectrum ...