Allele age estimators designed for whole-genome datasets show only a moderate reduction in performance when applied to whole-exome datasets.

Abstract excerpt

As personalized genomics becomes more affordable, larger numbers of rare variants are being discovered, leading to important initiatives in identifying the functional impacts in relation to disease phenotypes. One way to characterize these variants is to estimate the time the mutation entered the population. However, allele age estimators such as those implemented in the programs Relate, Genealogical Estimator of...

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