Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Human genome resequencing technologies are becoming ever more affordable and provide a valuable source of data about rare genetic variants in the human genome. Such rare variation may play an important role in explaining the missing heritability of complex human traits. We implement an existing method for analyzing rare variants by testing for association with the mutational load across genes. In this study, we make use of simulated data from the Genetic Analysis Workshop 17 to assess the power of this approach to detect association with simulated quantitative and dichotomous phenotypes and to evaluate the impact of missing genotypes on the power of the analysis. According to our results, the mutational load based rare variant analysis method is relatively robust to call-rate and is adequately powered for genome-wide association analysis.

Original publication

DOI

10.1186/1753-6561-5-S9-S107

Type

Journal article

Journal

BMC Proc

Publication Date

29/11/2011

Volume

5 Suppl 9