This standardbred filly, born in New Zealand, has unusual coloring due to a new genetic mutation. The genetic change responsible was identified by the Veterinary Genetics Lab at the UC Davis School of ...

Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. A reliable genotype–phenotype correlation ...

A new study in Science Translational Medicine, “A method to delineate de novo missense variants across pathways prioritizes genes linked to autism,” applies a novel analytical method on a class of ...

Real-world data demonstrate non-classical mutations are present in 20-30% of all patients with EGFRm NSCLC Emerging data show non-classical EGFR mutations can be co-expressed with the classical L858R ...

Hypertension is a cardiovascular disease that seriously threatens global public health. Early and effective control of blood pressure can prevent the occurrence of target organ damage and ...

According to Science Alert, neuroscientists from Johns Hopkins University have recently discovered a new treatment for Parkinson's disease using an FDA-approved cancer drug. A recent study published ...

A new long-read sequencing technique has helped researchers investigate how DNA mutations arise in a variety of contexts. A collaboration of researchers led by NYU Langone Health and NYU Grossman ...

As vaccination programs help reduce severe acute respiratory syndrome transmission coronavirus 2019 (SARS-CoV-2), one of the remaining concerns is the spread of variants of concern (VOCs). These ...

The highly infectious nature of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is largely due to its affinity for mutations that continue to evolve and emerge throughout the current ...

New findings have uncovered how essential the FOCAD gene is for maintaining a healthy liver, especially in children. Scientists have found that children carrying loss-of-function mutations in FOCAD ...