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Interpreting Genetic Variation

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One idea that was recognized as important early in the development of the non-profit testing program was the need for a uniform mechanism for reporting the likely clinical significance of the sequence variations that we detected. We therefore devised a system for calculating an "Estimate of Pathogenic Probability" or EPP. The details of this system are available on this website.

Briefly, an EPP of zero suggests that all available data would support a conclusion that the variation in question is a non-disease-causing polymorphism while an EPP of 3 would convey that the variant is very likely to be a high-penetrance disease-causing variation. We currently maintain a web-accessible database of sequence variations in genes for which we offer tests and provide an up to date EPP value for each one.

Retrieved Fri, 2024-06-21 20:25
Last modified Wed, 06/06/2007 - 21:11