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

These mutations, which are present in offspring but have not been passed down from parents, are known as de novo mutations. The rate of mutation is something that we should know; it shows how quickly ...

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 ...

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

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 ...

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 ...

We recently demonstrated that de novo mutations in BRD4 cause a neurodevelopmental disorder called Cornelia de Lange Syndrome (CdLS) due to reduced binding of BRD4 to acetylated histones at active ...

Once a mapping population is available, the present method allows a single investigator to identify a causative mutation in only 8 working days of hands-on time. Furthermore, de novo marker ...

Restez toujours informé: suivez-nous sur Google Actualités (icone ☆) "Les mutations de novo délétères, telles que celles observées dans le cadre de cette étude, pourraient expliquer en partie ...