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 genetic variants disrupt gene function and improve the diagnosis of rare ...
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 ...
A new single-cell technology is giving scientists their clearest view yet of immune cell behavior—capturing not just genetic ...
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 ...
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 ...
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 ...
A new single‑cell method, CIPHER‑seq, measures RNA and proteins together to reveal real‑time cytokine signaling.
The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...