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.

The researchers deeply sequenced five head and neck squamous carcinomas, four lung squamous carcinomas, and one colorectal adenoma.

A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.

Janina Krumbeck, PhD, discusses the clinical advantages of next-generation sequencing over traditional culture and how this untargeted diagnostic approach provides comprehensive pathogen ...

DNA methylation is a highly studied epigenetic modification that is involved in regulating genome function and plays fundamental roles in development and disease. 1 It is linked to a broad range of ...

Newborn babies admitted to the hospital's neonatal intensive care unit (NICU) rely on the quick decisions and rapid action of the medical team responsible for them. DNA testing is critical to ...

In a French criminal trial, conventional DNA analysis couldn’t distinguish between twin brothers, but emerging scientific methods could help in such cases.

A 19-year-old Canadian man becomes the first human cured through prime gene editing after doctors corrected a rare genetic ...

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 ...

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 ...