Estimating the human mutation rate using autozygosity in a founder population
نویسندگان
چکیده
منابع مشابه
Estimating effective population size or mutation rate with microsatellites.
Microsatellites are short tandem repeats that are widely dispersed among eukaryotic genomes. Many of them are highly polymorphic; they have been used widely in genetic studies. Statistical properties of all measures of genetic variation at microsatellites critically depend upon the composite parameter theta = 4Nmicro, where N is the effective population size and micro is mutation rate per locus...
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Mutation rate is an essential parameter in genetic research. Counting the number of mutant individuals provides information for a direct estimate of mutation rate. However, mutant individuals in the same family can share the same mutations due to premeiotic mutation events, so that the number of mutant individuals can be significantly larger than the number of mutation events observed. Since mu...
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Cryptic Variation in the Human Mutation Rate
The mutation rate is known to vary between adjacent sites within the human genome as a consequence of context, the most well-studied example being the influence of CpG dinucelotides. We investigated whether there is additional variation by testing whether there is an excess of sites at which both humans and chimpanzees have a single-nucleotide polymorphism (SNP). We found a highly significant e...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2012
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2418