Every living organism has its own genetic "blueprint": the source code for how it grows, functions and reproduces. This blueprint is known as a genome. When scientists sequence a genome, they identify ...

In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...

DNA sequencing is one of today's most critical scientific fields, powering leaps in humanity's understanding of genetic causes of cancer, neurodegenerative diseases, and diabetes. One issue facing the ...

Knowing how human DNA changes over generations is essential to estimating genetic disease risks and understanding how we evolved. But some of the most changeable regions of our DNA have been ...

Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed a new algorithm capable of building complete human genomes using standard ...

Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint ...

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...

Tiny repeated stretches of DNA in your genome may quietly shape how your body works, how your brain develops and how you respond to disease. A new study from scientists at The Hospital for Sick ...

The sequence pattern matters: Interruptions or “hitches” and loss of these within the C-A-G repeat and C-C-G repeat stretches play a major role as to when symptoms start with loss of interruptions ...

Newborn babies admitted to the hospital's neonatal intensive care unit (NICU) rely on the quick decisions and rapid action of the medical team responsible for them. DNA testing is critical to ...