CCRaVAT and QuTie - enabling analysis of rare variants in large-scale case control and quantitative trait association studies |
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Authors: | Robert Lawrence Aaron G Day-Williams Katherine S Elliott Andrew P Morris Eleftheria Zeggini |
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Institution: | 1.Wellcome Trust Centre for Human Genetics,University of Oxford,Oxford,UK;2.Wellcome Trust Sanger Institute,Hinxton,UK |
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Abstract: | Background Genome-wide association studies have been successful in finding common variants influencing common traits. However, these
associations only account for a fraction of trait heritability. There has been a shift in the field towards studying low frequency
and rare variants, which are now widely recognised as putative complex trait determinants. Despite this increasing focus on
examining the role of low frequency and rare variants in complex disease susceptibility, there is a lack of user-friendly
analytical packages implementing powerful association tests for the analysis of rare variants. |
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