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 ...

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 ...

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

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.

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

Today, genomics is saving countless lives and even entire species, thanks in large part to a commitment to collaborative and open science that the Human Genome Project helped promote. Twenty-five ...

Advanced genome sequencing is uncovering hidden autism gene variants, opening new possibilities for earlier diagnosis and ...

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 ...