Researchers say a new AI system can identify disease-causing mutations and explain their biological effects, potentially ...

A newly identified gene mutation may help explain why schizophrenia patients struggle to update their understanding of ...

Researchers have discovered that a mutation of the MDGA1 gene, a key factor modulating the connections and characteristics ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

An international group led by researchers from the RIKEN Center for Integrative Medical Sciences (IMS) in Japan has discovered associations between pathogenic variants of the BRCA 1 and 2 genes and ...

A study from Columbia University Mailman School of Public Health reports a major advance in understanding how interactions ...

Tobacco smoking is linked to specific genetic mutations in MDS, affecting chromatin modification and RNA splicing pathways. A dose-response relationship exists, with higher smoking intensity ...