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 ...

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 ...

New technological advancements have allowed us to look at the entire human genome. The genome is the complete set of genetic information encoded in the DNA. Human DNA has around three billion letters ...

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 ...

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

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 ...

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 ...

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 ...

Researchers at the University of California San Diego have identified 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 ...