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 ...

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 ...

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 ...

Stanford Converts Proteins Into DNA In Breakthrough Sequencing Leap

Stanford develops protein-to-DNA method enabling high-throughput protein sequencing Technique detects up to 1,000 times more ...
Regulatory Affairs Professionals Society

FDA drafts guidance on using next-generation sequencing to assess gene therapy safety

The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...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

Next-Generation Sequencing in Genomics and Clinical Research

This image illustrates the typical steps in next-generation sequencing (excluding single-molecule sequencing methods). The process begins with isolating genomic DNA (a) and breaking it into short ...
Devdiscourse

Unmasking DNA: The Hidden Drivers of Autoimmune Diseases

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

Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...