A new study has conducted the largest analysis of de novo mutations to date. These mutations are detected for the first time in an individual without being Mendelian inherited from parents. The research examined over 46,000 disease-associated de novo mutations reported in humans with the objective of understanding how these mutations are dispersed across gene and disease categories.
The authors found a higher incidence in some genes and diseases such as neurodevelopmental and psychiatric. The team also demonstrated that these mutations are more likely to be more deleterious than Mendelian inherited mutations, and plans to extend this study for a more comprehensive analysis of these types of gene lesions in the future, to a better understanding of the genetic basis of these disorders.
The project was coordinated by senior researcher Luísa Azevedo (UMIB, ICBAS, ITR) and conducted by a multidisciplinary team that involved researchers from UMIB, ICBAS, CHUdSA, CIIMAR, from the University of Porto PT, and collaborators from University of Cardiff UK.
For more information visit https://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00587-8