Journal article

Comparison of similarity-based tests and pooling strategies for rare variants

Sergii Zakharov, Agus Salim, Anbupalam Thalamuthu

BMC Genomics | BMC | Published : 2013

Abstract

As several rare genomic variants have been shown to affect common phenotypes, rare variants association analysis has received considerable attention. Several efficient association tests using genotype and phenotype similarity measures have been proposed in the literature. The major advantages of similarity-based tests are their ability to accommodate multiple types of DNA variations within one association test, and to account for the possible interaction within a region. However, not much work has been done to compare the performance of similarity-based tests on rare variants association scenarios, especially when applied with different rare variants pooling strategies.Based on the populatio..

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Awarded by GAW


Awarded by NIH


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Awarded by NATIONAL INSTITUTE OF MENTAL HEALTH


Funding Acknowledgements

We would like to thank the workshop organizers of GAW17 for their permission to use their data in our research. The preparation of the Genetic Analysis Workshop 17 Simulated Exome Data Set was supported by a GAW grant, R01 GM031575, and in part by NIH R01 MH059490, and used sequencing data from the 1000 Genomes Project (www.1000genomes.org). Funding: This work was supported by the Agency for Science, Technology and Research (A* STAR; Singapore). The first author is a recipient of the Singapore International Graduate Award.