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Estimating the human mutation rate using autozygosity in a founder population
- Campbell, Catarina D;
- Chong, Jessica X;
- Malig, Maika;
- Ko, Arthur;
- Dumont, Beth L;
- Han, Lide;
- Vives, Laura;
- O'Roak, Brian J;
- Sudmant, Peter H;
- Shendure, Jay;
- Abney, Mark;
- Ober, Carole;
- Eichler, Evan E
Published Web Location
https://doi.org/10.1038/ng.2418Abstract
Evan Eichler and colleagues report an estimate of the mutation rate in humans that is based on the whole-genome sequences of five parent-offspring trios from a Hutterite population and genotyping data from an extended pedigree. They use a new approach for estimating the mutation rate over multiple generations that takes into account the extensive autozygosity in this founder population.
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