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17 maj 2013 · 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. Such technologies coupled with advances in genome sequencing will ultimately allow scientists to generate ontogenic maps of mutation tracking the origin ...
9 maj 2017 · Germline mutation rates are known to vary between species but somatic mutation rates are less well understood. Here the authors compare mice and humans, observing that somatic mutation...
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.
1 wrz 2000 · The average mutation rate was estimated to be ~2.5 × 10 −8 mutations per nucleotide site or 175 mutations per diploid genome per generation. Rates of mutation for both transitions and transversions at CpG dinucleotides are one order of magnitude higher than mutation rates at other sites.
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...
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.
1 cze 2003 · Mutation rate is an essential parameter in genetic research. Counting the number of mutant individuals provides information for a direct estimate of mutation rate.
