Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...

The Alzforum Mutations database has upped its game. This repository includes rap sheets on more than 500 variants in the three autosomal-dominant Alzheimer’s disease genes amyloid precursor protein ...

In a recent study posted in the bioRxiv* preprint server, researchers explored the impact of a loss-of-function mutation in the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron ...

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial disorders, which often lead to severe disability and death. They have ...