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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 ...
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 ...
Phys.org

Computational tool incorporates transcriptome size to improve RNA-seq analysis

Genes are expressed when messenger RNA is made from DNA, which is then translated into proteins. Researchers use single-cell and bulk RNA-seq analysis to study gene expression, creating vast amounts ...

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 ...
The Conversation

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

Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint for these cells is essentially the same. Where do those differences come ...
Medical Xpress

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 intent, but real-time activity. By measuring RNA and proteins ...