European Journal of Human Genetics

FIGURE 3

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Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Nathalie Delphin, David Benezra, Stavit Shalev, Rivka Carmi, Josué Feingold, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet and Marc Jeanpierre

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Figure 3.

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A graphical approach to the construction of probability density functions. (a) A branch is added to a pair of haplotypes, corresponding to the simplest possible tree. (b) The dotted line represents the power (approximately exponential) function for the common region of two haplotypes. The solid line represents the common region of three haplotypes. The dashed line represents the distal boundary function, expressed as the difference between two power functions. The X-axis is the distance from the mutation, and the Y-axis is a dimensionless quantity.

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