For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

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

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 ...

Understand the stages of a standard RNA-seq bioinformatics workflow, including the role of QC, alignment, gene expression quantification, and specialized application analyses Identify key QC metrics ...

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 ...

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 ...

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

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

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 ...