In a single experiment, scientists can decipher the entire genomes of many patient samples, animal models, or cultured cells.

In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...

Scientists reveal a hidden second layer of human DNA, showing how genome folding controls genes and influences disease development.

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

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 ...

A team of researchers has built a new protein sequencing workflow that pairs mirror proteases with deep learning software to read peptide sequences with far greater accuracy than previous methods.

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum ...

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

A study published in the journal Science reveals how jumping fragments of human DNA, a type of genetic parasite, destabilize ...

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 ...

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 ...