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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.
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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...
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.
28 mar 2024 · Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between...
17 maj 2013 · Over the past few years, genomic technologies have made it possible to obtain direct knowledge concerning rates of human mutation. Recent studies are converging on similar SNV mutation rates, quantifying the male mutation bias and its relation with paternal age.
For example, mutations in the proofreading exonuclease domain of DNA polymerase ϵ cause TCT → TAT and TCG → TTG mutations on the leading DNA strand (Shinbrot et al., 2014). Mutational shifts of this kind have been referred to as ‘mutational signatures’.
24 gru 2019 · To systematically identify somatic mutations in the human body and to investigate their distribution and functional impact, we developed a method that leverages the genomic information carried by RNA to identify DNA somatic mutations while avoiding most sources of false positives.
