The variant of the CHRNB3 gene, involved in the regulation of the substance, is starting to be considered as a possible ...

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

An exome-wide association study of nearly 38,000 smokers from the Mexico City Prospective Study identified rare coding ...

Scientists have found that a special component in some people's blood provides them with natural protection against malaria.

Recent advances in genome sequencing have improved all aspects of uncovering the human genome. One of the unlocked areas includes variant calling, or identifying and cataloging genetic variations, ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Bionano Genomics, Inc. (Nasdaq: BNGO) today announced highlights from Day 3 of Bionano Symposium 2026, entitled OGM Making its Mark in Constitutional Genetic Disorders. Presentations highlighted how ...

Human pluripotent stem-cells (HPSCs)—including human embryonic stem-cells and human induced pluripotent stem-cells—are reshaping the landscape of regenerative medicine.1,2 In Parkinson's disease, ...

One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear. Human geneticists at the University Medicine Oldenburg (Germany) have now ...

Since its launch in 2022, the programme has reduced the time to diagnosis from a global average of 7.6 years to just weeks.