LETTER TOTHE EDITOR Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

Abstract

(i) Some of our proposed pathogenic variants have a minor allele frequency (MAF) of 40.01 in the population. Although useful as an initial guide, the 1%MAF is an arbitrary cut-off designed to rapidly filter-out common polymorphic genetic variants from a large exome data set. However, this must be done with care for several reasons. First, allele frequencies… (More)

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Cite this paper

@inproceedings{Pyle2015LETTERTE, title={LETTER TOTHE EDITOR Reply: Evaluation of exome sequencing variation in undiagnosed ataxias}, author={Angela Pyle and Helen R. Griffin and Michael J. Keogh and Rita Horvath and Patrick F. Chinnery}, year={2015} }