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 ...

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 ...

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 ...

A team at Rice University has built a lab platform that can map the activity of more than 10 million protein variants in a ...

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 ...

Advances in DNA sequencing technology help forensic biologists identify suspects where traditional DNA profiling has failed, ...

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 ...

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, ...

The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...

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 ...