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 ...

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 ...

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

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 ...

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

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 from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...