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 ...

These sequences are extremely prone to mutations and rank among the most functionally important regions in the entire human ...

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 first 100 bases of many genes show excess mutations, revealing a major genomic weak spot that shapes disease risk and highlights hidden patterns of inherited change.