research data . Dataset . 2016

Testing for an Unusual Distribution of Rare Variants

M. Neale, Benjamin; A. Rivas, Manuel; F. Voight, Benjamin; Altshuler, David; Devlin, Bernie; Orho-Melander, Marju; Kathiresan, Sekar; M. Purcell, Shaun; Roeder, Kathryn; Daly, Mark J.;
  • Published: 01 Jan 2016
  • Publisher: Figshare
Abstract
<div><p>Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare variation. Still this approach faces the analytic challenge that the influence of very rare variants can only be evaluated effectively as a group. A further complication is that any given rare variant could have no effect, could increase risk, or could be protective. We propose here the C-alpha test statistic as a novel approach for testing for the presence of this mixture of effects across a set of rare variants. Unlike existing burden tests, C-alpha, by testing the variance rather than the mean, maint...
Subjects
free text keywords: Genetics, Mathematics, Cancer, variants
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Dataset . 2016
Provider: figshare
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