Morning Overview on MSN

Long-read RNA sequencing tool boosts rare-disease diagnoses missed by DNA tests

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 ...
News-Medical.Net

New RNA sequencing method improves rare disease diagnosis

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

Direct RNA Sequencing Supports Novel Discoveries in RNA Biology

Years of experiments and databases filled with RNA-seq results belie the simple reality that, until fairly recently, it was impossible to analyze RNA directly. The RNA-seq studies performed with ...
EurekAlert!

Children’s Hospital of Philadelphia researchers develop new RNA sequencing platform for diagnosing rare diseases

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 ...

RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

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