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 ...

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 ...

Less than two percent of the human genome codes for proteins, with the rest being noncoding and likely helping with gene regulation. Mutations in the noncoding genome often trigger trait changes that ...

Using whole genome sequencing, researchers identified a single variant in a microRNA gene, MIR145-5p, as the source of multisystemic smooth muscle dysfunction syndrome, which had gone undiagnosed in a ...