The genetic heritage is not a simple, static list inside the cell nucleus. It unfolds into a dynamic architecture whose ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

The analysis revealed that about 2 per cent of sperm from men in their early 30s contained disease-causing mutations. That ...

Sometimes, a small error in the sequence of DNA can lead to a very serious disease. Scientists have identified many mutations ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

All cancer mutations that cause drug resistance fall into one of four categories. New research has detailed each type, helping to uncover targets for drug development and identify potential effective ...

MPN-BP transformation is driven by sequential mutations disrupting genomic stability, with TP53 mutations being strong predictors of progression. TP53 mutations confer a selective growth advantage, ...

What do a millennia-old human from the Black Sea region and modern HIV medicine have in common? Quite a lot, it turns out, according to new research from the University of Copenhagen. 18-25 percent of ...

The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene. When ...

OKLAHOMA CITY – Researchers at the University of Oklahoma are advancing the fight against inherited retinal diseases (IRDs) with new genetic research that aims to improve diagnoses and lay the ...