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 ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...

Cornell researchers have found that a new DNA sequencing technology can be used to study how transposons move within and bind to the genome. Transposons play critical roles in immune response, ...

Scientists in the laboratory of Rendong Yang, Ph.D., associate professor of Urology, have developed a new large language model that can interpret transcriptomic data in cancer cell lines more ...

What is Third-Generation Sequencing? Third-generation sequencing, also known as long-read sequencing, refers to the latest advancements in DNA sequencing technologies that enable the analysis of ...

Whole genome analysis plays a critical role in the development of life-saving diagnostics, therapeutics, and vaccines, with growing interest in noncoding regions and Whole genome analysis plays a ...

Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...

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, ...

For decades, scientists have struggled to untangle the genetic complexity of crops with multiple chromosome sets. Now, researchers have unveiled a cost-effective sequencing method, dpMIG-seq, that ...

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 ...