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 ...

Tape-strip RNA sequencing identifies shared Th17/Th22 upregulation and epidermal differentiation complex activation across ...

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 intent, but real-time activity. By measuring RNA and proteins ...

Rapid precision run-on sequencing (rPRO-seq) may help doctors understand disease states and treatment response in real time. Researchers at Sylvester Comprehensive Cancer Center (FL, USA) have ...

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 ...

Why do brain disorders affect men and women differently? Researchers used RNA sequencing to identify 3,000 sex-biased genes ...

New RNA-Seq innovations include a regional sequencing hub and an RNA preservation solution enabling ambient shipping. These ...