Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...
In a single experiment, scientists can decipher the entire genomes of many patient samples, animal models, or cultured cells.
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.
At first her doctor wasn’t too concerned; some newborns have seizures. But Sebastiana’s kept coming every few hours. And the ...
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 ...
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 ...
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