Technology Networks

Long-Read RNA Sequencing Platform Helps Diagnose Rare Diseases

Researchers developed STRIPE, a targeted long-read RNA sequencing tool that identifies disease-causing variants missed by ...
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 ...

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 genetic variants disrupt gene function and improve the diagnosis of rare ...
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 ...
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 ...

Sequencing method exposes hidden gaps in immune signaling by tracking RNA and protein together

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

RNA is key to the dark matter of the genome − scientists are sequencing it to illuminate human health and disease

Marlene Belfort does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond ...
Baylor College of Medicine

Researchers show benefit of ultra-deep RNA sequencing in Mendelian disorder diagnostics

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...
National Academies of Sciences%2c Engineering%2c and Medicine

Toward Sequencing and Mapping of RNA Modifications

RNA plays critical roles in nearly all biological processes, but current methods for sequencing RNA are significantly limited. This is partially because RNA molecules are chemically modified within ...