The first and largest dataset of genomic structure variations specific to childhood cancers was published today by scientists ...

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.

Structural genetic variants include large (>50 base pairs) duplications, inversion, translocations or deletions. Recent advances in long-read sequencing and optical genome mapping, combined with more ...

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new ...

Structural variants (SVs) are the largest source of variations in the human genome and are frequently associated with disease phenotypes. Thus, the identification and characterization of SVs are ...

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 ...