Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Researchers have changed the way to look at DNA. They show that DNA is much more than a linear sequence of building blocks; it has a 3D structure that influences the variation of human genome-wide ...

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 ...

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 ...

In many aspects of our lives, we find meaning in the order in which events occur. We buy into myths about "middle child syndrome," talk of calm before storms, and consider it strange to start a meal ...

Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our bodies as we age. In the largest study to date, they have used the tool to provide ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for therapeutics. Among them, the Y220C mutation is the ninth most frequent and it ...