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

How AI is sequencing the genomes of all known living species on Earth By Abhimanyu Ghoshal November 11, 2025 Sequencing a genome today involves recording and assembling data with a high degree of ...

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

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 ...

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 ...

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 ...

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 ...

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 ...

A study published in the journal Science reveals how jumping fragments of human DNA, a type of genetic parasite, destabilize the cancer genome. Unstable genomes are a fertile playground for cancer ...