Emma Broadbent had just turned one when her parents were told that, despite months of tests, physicians still had no explanation for her condition. Emma’s brain was not developing myelin, the fatty ...

Due to their repetitive and complex DNA sequences, centromeres have been viewed as the "black boxes" of the genome for decades. Often overlooked in sequencing projects but playing a critical role in ...

However, it should only get easier with automation and AI assistance. While sequencing the very first human genome took an entire decade and cost $3 billion up until 2003. Today, it can be wrapped up ...

UC Santa Cruz has a long history of pioneering advances in genomics research. The first working draft of a human genome sequence was assembled on our campus in 2000, which has led to enormous leaps in ...

The research represents a major step forward in revealing how the three dimensional form of DNA shapes the way human biology functions. In a major step toward understanding how the physical form of ...

A new Guinness World Record for fastest whole human genome sequencing has been achieved, with researchers breaking down a patient's genetic profile in less than four hours. The 3-hour 57-minute ...

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 ...

In a breakthrough that redefines both speed and clinical potential, a new world record for the fastest human whole genome sequencing has been set. Think of all the things that can be done in four ...

Nearly a year after leaving his position as longtime director of the National Human Genome Research Institute (NHGRI), Eric ...

Scientists at St. Jude Children's Research Hospital have revealed previously unappreciated roles for the retrotransposon LINE ...