For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

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

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

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 ...

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 ...

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 ...

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 ...

Samples are commonly stored in a way that degrades RNA. Scientists are devising new ways to overcome this obstacle for RNA sequencing. RNA is more subject to degradation than DNA, whether chemical, ...

A new single‑cell method, CIPHER‑seq, measures RNA and proteins together to reveal real‑time cytokine signaling.

This study generated two million short DNA sequences, known as signature sequences or sequence tags, to identify and quantify both known and novel small RNA molecules. with the Breaking Science News ...