Article
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.
European journal of human genetics : EJHG - 1 Jan 2008
Hanein Sylvain, Perrault Isabelle, Gerber Sylvie, Delphin Nathalie, Benezra David, Shalev Stavit, Carmi Rivka, Feingold Josué, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel, Jeanpierre Marc
Abstract excerpt
The mosaic pattern of haplotypes observed around a single mutation results from one or several founder events. The difficulties involved in calculating the age of the variant are greatly reduced by assuming a single event, but this simplification may bias analysis of the genealogy of the mutation. However, if it is assumed that more than one founder event occurred, the number of genealogies is very large and the...
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