Microarrays 2013, 2(3), 265-283; doi:10.3390/microarrays2030265
Article

Kernel-Based Aggregation of Marker-Level Genetic Association Tests Involving Copy-Number Variation

1email and 2,* email
Received: 2 August 2013; in revised form: 29 August 2013 / Accepted: 30 August 2013 / Published: 4 September 2013
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract: Genetic association tests involving copy-number variants (CNVs) are complicated by the fact that CNVs span multiple markers at which measurements are taken. The power of an association test at a single marker is typically low, and it is desirable to pool information across the markers spanned by the CNV. However, CNV boundaries are not known in advance, and the best way to proceed with this pooling is unclear. In this article, we propose a kernel-based method for aggregation of marker-level tests and explore several aspects of its implementation. In addition, we explore some of the theoretical aspects of marker-level test aggregation, proposing a permutation-based approach that preserves the family-wise error rate of the testing procedure, while demonstrating that several simpler alternatives fail to do so. The empirical power of the approach is studied in a number of simulations constructed from real data involving a pharmacogenomic study of gemcitabine and compares favorably with several competing approaches.
Keywords: CNV association study; multiple testing; family-wise error rate; kernel methods
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MDPI and ACS Style

Li, Y.; Breheny, P. Kernel-Based Aggregation of Marker-Level Genetic Association Tests Involving Copy-Number Variation. Microarrays 2013, 2, 265-283.

AMA Style

Li Y, Breheny P. Kernel-Based Aggregation of Marker-Level Genetic Association Tests Involving Copy-Number Variation. Microarrays. 2013; 2(3):265-283.

Chicago/Turabian Style

Li, Yinglei; Breheny, Patrick. 2013. "Kernel-Based Aggregation of Marker-Level Genetic Association Tests Involving Copy-Number Variation." Microarrays 2, no. 3: 265-283.

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