An advanced genomic analysis of a multigenerational family is providing new knowledge about genetic mutations and their ...

How fast does the human genome change? Scientists have attempted to answer this question by studying mutation rates over ...

Trouble is, determining the rate of new mutations – known as de novo mutations, meaning they’ve not been inherited from ...

A team of researchers has used advanced DNA sequencing to develop the most comprehensive atlas yet of genetic change through ...

Kennedy's autism plan overlooks scientific evidence. Only population-wide, longitudinal studies can reveal the complex roots ...

The scientists used a combination of short- and long-read sequencing data to assemble and analyze genomes from 28 members of ...

Mosaicism can result when a de novo mutation arises after an embryo is formed. Using newer, more sensitive sequencing technologies, researchers have recently begun to identify mosaic mutations. For ...

Estimates of overall human de novo mutation rate—the appearance of new gene mutations—have been largely carried out using indirect methods, such as extrapolating mutation rates from disease states or ...

Advanced maternal or paternal age has been associated with a slightly increased risk of Autism Spectrum Disorder (ASD). This ...

More information: Yoo-Jin Jiny Ha et al, The contribution of de novo coding mutations to meningomyelocele, Nature (2025). DOI: 10.1038/s41586-025-08676-x ...