Fast functional testing of genetic variants, from newborn genomes to disease models like zebrafish, is transforming ambiguous DNA findings into confident, real‑time treatment decisions.

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 ...

Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed ...

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 ...

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 ...

The collection of high-quality genomic DNA remains a major barrier in pediatric and neurodevelopmental research, particularly among children with autism spectrum disorder (ASD) and other neurogenetic ...

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 ...

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 ...