Many babies enter the world with silent metabolic or genetic conditions. Today, standard newborn screening can check for some ...

Boston Children's Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid ...

For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to ...

Adding genomic sequencing to the standard newborn screening heel-prick test is changing how we diagnose kids with genetic ...

The Center of Excellence in Medical Genetics, Faculty of Medicine, Chulalongkorn University, has launched one of the worl ...

Researchers at Boston Children's Hospital said they sequenced a patient's genome in 3 hours and 57 minutes, breaking a ...

Imagine waiting years to find out what is wrong with your child. For families dealing with rare disease, this is a harsh reality, and the journey is often long and filled with uncertainty. On average, ...

Roche has set a new Guinness World Record for the fastest sequencing of a human genome, marking a major milestone in genomic ...

Whole genome sequencing offered to breast cancer patients is likely to identify unique genetic features that could either ...

The cancer was detected because he was enrolled in a "world-leading research study" which is screening 100,000 newborn babies ...