Document Type
Article
Original Publication Date
2014
Journal/Book/Conference Title
PLOS ONE
Volume
9
DOI of Original Publication
10.1371/journal.pone.0085728
Date of Submission
November 2014
Abstract
With the development of next-generation sequencing technology, there is a great demand for powerful statistical methods to detect rare variants (minor allele frequencies (MAFs)-MidPmethod (Cheung et al., 2012, Genet Epidemiol 36: 675–685) and propose an approach (named ‘adaptive combination of P-values for rare variant association testing’, abbreviated as ‘ADA’) that adaptively combines per-site P-values with the weights based on MAFs. Before combining P-values, we first imposed a truncation threshold upon the per-site P-values, to guard against the noise caused by the inclusion of neutral variants. ThisADA method is shown to outperform popular burden tests and non-burden tests under many scenarios. ADA is recommended for next-generation sequencing data analysis where many neutral variants may be included in a functional region.
Rights
© 2014 Lin et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Is Part Of
VCU Biostatistics Publications
The distributions of the population minor allele frequencies (MAFs) and genotype relative risks (GRRs) of the causal variants in our 200 simulated data sets.
Comments
Originally Published at http://dx.doi.org/10.1371/journal.pone.0085728