Article
Estimating the human mutation rate using autozygosity in a founder population.
Nature genetics - 1 Nov 2012
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
Abstract excerpt
Knowledge of the rate and pattern of new mutation is critical to the understanding of human disease and evolution. We used extensive autozygosity in a genealogically well-defined population of Hutterites to estimate the human sequence mutation rate over multiple generations. We sequenced whole genomes from 5 parent-offspring trios and identified 44 segments of autozygosity. Using the number of meioses separating...
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