RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...

Torino is a computational workflow that uses biobank-scale RNA-seq data to decode transcript structures and expression levels from read coverage alone.

Research underscores clinical utility of RNA sequencing in providing critical insights to drive diagnoses and medical ...

The company says the system can benefit pharmaceutical and biotech firms seeking rapid feedback on drug candidates or genome editing.

RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

By examining genomic variation more closely, scientists can now identify new disease connections with greater speed and accuracy. For centuries, scientists have recognized that certain illnesses can ...

EMBL researchers and collaborators have developed SDR-seq, a breakthrough single-cell technology that captures DNA and RNA ...