When it comes to identifying cancer-driving mutations, research has focused almost exclusively on understanding how mutations in the coding region of genes may alter a protein’s function to promote ...

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 ...

Inocras and the Broad Institute analyzed 8,000+ TCGA cancer genomes to uncover new drivers and create a harmonized dataset ...

In a recent study published in Nature, researchers in the United States aggregated and processed 76,156 human genomes to construct a genomic constraint map named "genomic non-coding constraint of ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, has historically been opaque. Geneticist and Crick group leader Greg ...

Learn how small mutations in non-coding DNA can alter sex development in rodents.