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 ...
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 ...

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 ...
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Multimodal method combines imaging and sequencing to study gene function in intact tissue

Imagine that you want to know the plot of a movie, but you only have access to either the visuals or the sound. With visuals alone, you'll miss all the dialog. With sound alone, you will miss the ...
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The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...