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 ...

—Classifying myelodysplastic syndrome and secondary acute myeloid leukemia by genetic mutations rather than strictly by blast count may allow more patients to be eligible for AML and MDS clinical ...

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 ...

Genetic risk models and variant classification tools are refining breast cancer risk assessment by identifying high-risk individuals for intensive surveillance or targeted therapies, while guiding ...

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 ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...