Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

What is Single-Cell Sequencing? Single-cell sequencing is a revolutionary technology that allows researchers to analyze the genetic material of individual cells, providing unprecedented insights into ...

To understand more fully the role of RNA and its modifications in living systems, researchers will need robust, reproducible, and accessible tools and techniques capable of identifying all RNA ...

Researchers at The University of Texas MD Anderson Cancer Center and The University of Texas at Austin have identified ...

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 ...

A routine experiment with a new single-cell DNA sequencing method turned into a surprising scientific twist when researchers ...

RNA sequencing works best on fresh-frozen cells, but that’s not usually how samples from surgery or biopsies are prepared. For more than a century, the preferred method for long-term preservation of ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...

PacBio has announced a new study published in Nature Communications that presents an innovative method for analyzing complex regions of the human genome, particularly segmental duplications that have ...

Scientists at the USDA’s Agriculture Research Service have demonstrated the potential of a form of whole genome sequencing for the early detection of Salmonella on food contact surfaces. The research ...