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

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

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

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 ...

NIH funding has allowed scientists to see the DNA blueprints of human life—completely. In 2022, the Telomere-to-Telomere Consortium, a group of NIH-funded scientists from research institutions around ...

To many, the genome is a puzzle—a many-sided puzzle whose meaning stretches across your life, your children's, and your family's. To many, the genome is a puzzle—a many-sided puzzle whose meaning ...

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 ...

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 ...

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 ...

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 ...