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Bioinformatics Advance Access published online on November 21, 2006

Bioinformatics, doi:10.1093/bioinformatics/btl580
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© The Author (2006). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received August 2, 2006
Revised October 26, 2006
Accepted November 13, 2006

Applications note

WHAP: haplotype-based association analysis

Shaun Purcell 1 *, Mark J. Daly 1, and Pak C. Sham 2

1 Center for Human Genetic Research, MGH, Boston, USA; Broad Institute of Harvard and MIT, Cambridge, USA
2 Genome Research Center, University of Hong Kong, Pokfulam, Hong Kong

* To whom correspondence should be addressed.
Shaun Purcell, E-mail: shaun{at}pngu.mgh.harvard.edu


   Abstract

Summary: We describe a software tool to perform haplotype-based association analysis, for quantitative and qualitative traits, in population and family samples, using single nucleotide polymorphism or multiallelic marker data. A range of tests is offered: omnibus and haplotype-specific tests; prospective and retrospective likelihoods; covariates and moderators; sliding window analyses; permutation p-values. We focus on the ability to flexibly impose constraints on haplotype effects, which allows for a range of conditional haplotype-based likelihood ratio tests: for example, whether an allele has an effect independent of its haplotypic background, or whether a single variant can explain the overall association at a locus. We illustrate using these tests to dissect a multi-locus association.

Availability: WHAP is a C/C++ program, freely available from the author's website: http://pngu.mgh.harvard.edu/purcell/whap/.


Associate Editor: Keith A Crandall
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