Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

Researchers developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases. The study team demonstrated that this ...

A new single-cell technology is giving scientists their clearest view yet of immune cell behavior—capturing not just genetic ...

The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...

A study using advanced DNA sequencing methods finds that somatic mutations in immune cells could drive autoimmune diseases.

Cornell researchers have found that a new DNA sequencing technology can be used to study how transposons move within and bind to the genome. Transposons play critical roles in immune response, ...

This research, led by Prof. Haichen Wu from the Institute of Chemistry, Chinese Academy of Sciences (CAS), and Prof. Lei Liu from the Institute of High Energy Physics, CAS, alongside their ...