A 10-year study shows that a multipronged approach using whole exome sequencing can improve diagnostic yield in patients with ...

A Florida state legislator sponsored the nation's first state-backed genetic screening program after his son died from a rare genetic disease.

Every living organism has its own genetic "blueprint": the source code for how it grows, functions and reproduces. This ...

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 ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

Element Biosciences is going toe-to-toe with gene-sequencing giant Illumina, unveiling a device that can read DNA for half the price of the industry leader’s technology. On Thursday, Element ...

For 50 years, scientists at the San Diego Zoo have been collecting and storing cells from rare and endangered species in its Frozen Zoo with an eye to the future. The future is here. The San Diego Zoo ...

It is hoped screening babies’ DNA could detect hundreds more rare, treatable diseases in their first years of life ...

People often remark that allergies run in their family, but the genetic causes have remained unclear. Previous food allergy ...

Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint for these cells is essentially the same. Where do those differences come ...

Discover how an ancient gene influences the sex of ant, bee, and wasp embryos, impacting conservation and breeding practices.

Integration of HiFi Long-Read Whole-Genome Sequencing Expands the Collective Capabilities of iHope’s Global Rare Disease ...