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1 gru 2023 · We present a model to predict the chance of each possible de novo mutation in the human genome informed by recent insights into determinants of mutagenesis.
19 cze 2023 · Among all the studied species, a ciliate (Tetrahymena thermophila) had the lowest mutation rate, estimated at 0.01 × 10 −9 per generation per base pair, while a fungus (Marasmius oreades) had the highest rate, estimated at 55.58 × 10 −9 —a difference of over 5,000-fold.
17 maj 2013 · It has already enabled analysis of somatic mutations in tumor samples , embryos , and haplotype phasing of individual cells . Its application to sperm and egg will enable the calculation of the true germline mutation rate and provide data on effects of positive and negative selection of mutations within germ cells.
25 sie 2021 · Over the course of an individual’s lifetime, normal human cells accumulate mutations1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple...
23 cze 2021 · Despite years of active research into the role of DNA repair and replication in mutagenesis, surprisingly little is known about the origin of spontaneous human mutation in the germ line.
Here, we investigated human germline mutations within and between multi-sibling families. This allowed us to compare mutation rates and spectra between families and to detect instances of post-zygotic mosaicism. We also investigated mutational processes and spectra more broadly by combining our data with previously published datasets.
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.
