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6 wrz 2019 · In humans, most germline mutations are paternal in origin and numbers of mutations per offspring increase with paternal and maternal age. Here we estimate germline mutation rates and...
- The origin of human mutation in light of genomic data
The field of germline mutagenesis is entering a new exciting...
- The origin of human mutation in light of genomic data
23 cze 2021 · The field of germline mutagenesis is entering a new exciting phase. Extensive sequencing data offer a clear picture of the mutation process as it occurs in humans, as opposed to an...
14 gru 2015 · Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families.
25 wrz 2015 · Germline mutations are the principal cause of heritable disease and the ultimate source of evolutionary change. Similarly, somatic mutations are the primary cause of cancer and may contribute to the burden of human disease more broadly than previously appreciated.
All genetic variation arises via new mutations, and therefore determining the rate and biases for different classes of mutation is essential for understanding the genetics of human disease and evolution. Decades of mutation rate analyses have ...
Here, we review the genome-wide analyses for the mutation rate of several types of variants and suggest areas for future research. Keywords: de novo mutation; genome wide; germline mutation rate; paternal age; paternal bias.
25 wrz 2022 · The origination of genetically distinct cells from a single zygote necessitates de novo post-zygotic mutational events (Veltman and Brunner, 2012) as the cause of mosaicism, and these mutations can result in sporadic disease.
