When the COVID-19 pandemic was at its peak, and multiple variants were threatening lives around the world, scientists relied ...

This research, led by Prof. Haichen Wu from the Institute of Chemistry, Chinese Academy of Sciences (CAS), and Prof. Lei Liu from the Institute of High Energy Physics, CAS, alongside their ...

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 ...

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...

Researchers at the University of Toronto have invented a new method that uses DNA sequencing to measure metabolites. This enables rapid and precise analysis of biological compounds, such as sugars, ...

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 ...

While next generation sequencing (NGS) has become a staple method for some researchers, it is often out of reach due to its high cost and technical challenges. To solve this problem, a novel ...

This image illustrates the typical steps in next-generation sequencing (excluding single-molecule sequencing methods). The process begins with isolating genomic DNA (a) and breaking it into short ...

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 ...

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 ...