A landmark study harnesses long-read sequencing to reveal vast, previously undetected structural variations in human DNA, reshaping our understanding of genetics and disease potential. Study: ...

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

Scientists have created the most detailed cell map to date showing how genetic variation influences inflammatory bowel disease (IBD), revealing the specific cells and genes that drive the disease.

In an era where the U.S. healthcare system spends $4.5T annually yet faces systemic failures, with life expectancy plummeting to a three-decade low and chronic disease rates at an all-time high, the ...

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 ...

When it comes to finding answers, every moment counts—especially in critical care settings like the neonatal and pediatric intensive care units (NICU and PICU). Although rapid genetic tests, whether ...

Fingerprinting transformed police investigations by making it possible to place a suspect at a crime scene with physical evidence. Similarly, genome sequencing has changed how disease detectives study ...