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19 cze 2023 · We focus on the variation in mutation rate among species, and the relationship between mutation rate estimates and the experimental method, generation time, genome size, and genetic diversity. Methods. We made an exhaustive literature search for publications on the experimental estimation of mutation rate.
14 wrz 2018 · A detailed understanding of the genome-wide variability of single-nucleotide germline mutation rates is essential to studying human genome evolution. Here, we use ~36 million singleton variants...
28 mar 2024 · Germline variants are inherited and templated in all cells of an individual (Fig. 1a), with evolutionary forces such as selection, recombination and drift shaping their frequency and...
25 sie 2017 · Here we introduce a new framework, differential mutation analysis, that uncovers cancer genes by comparing the mutational profiles of genes across cancer genomes with their natural germline variation profiles across healthy individuals.
Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families. Mutation rate increased with paternal age in all families, but the number of additional mutations per year differed more than two-fold between families.
22 wrz 2024 · In multicellular animals, there is a partitioning early in development into somatic cells, which form the body cells, and germline cells, which form the gametes for the next generation. Mutations may be passed on to somatic cells via mitosis and to gametes via meiosis.
Human germline mutations are incredibly varied: they include alterations in the number of chromosomes (in aneuploidy 2, 3 and triploidy 4) and changes in gene dosage owing to duplications or...
