Genome-wide Association Study Software


The following programs have been written to facilitate the analysis of genome-wide association studies. These tools were used in the
design and analysis of the 7 genome-wide association studies carried out by the Wellcome Trust Case-Control Consortium (WTCCC) [2].

LICENCE CONTRIBUTORS REFERENCES CONTACT

IMPUTE a program for genotype imputation in genome-wide association studies and fine-mapping
studies based on a dense set of marker data (such as HapMap) [1,4,6]
v2.2.2
27-01-2012
SNPTEST a program for Frequentist and Bayesian tests of SNP association with binary (case-control)
and quantitative phenotypes that takes genotype uncertainty into account [1,6]
v2.3.0
16-12-2011
HAPGEN
a program to simulate case control datasets at linked SNP markers conditional upon a set
of known haplotypes [3]

v2.2.0
01-04-2011
META
a program to carryout meta-analysis of genetic studies.
v1.4.0
19-12-2011
GENECLUSTER
a program for location and detection of unobserved causal loci in fine-mapping experiments
and genome-wide association studies [5]
v1.0.0
19-03-2010
QCTOOL
a program for carrying out SNP and sample quality control (QC) for genome-wide
association studies
v1.0.0
26-07-2010
CHIAMO
a genotype calling algorithm for multi-cohort studies
v0.2.1
22-10-2007
GTOOL
a program for (a) generating subsets of genotype data, and (b) converting genotype data
between the PED file format and the FILE FORMAT used by SNPTEST and IMPUTE.
v0.7.0

15-08-2011

Please fill out the REGISTRATION FORM to receive emails about updates to any of these software packages.

Most of these programs are designed to work together in a seamless fashion (based on a central FILE FORMAT). A schematic illustrating how they can be combined is given below.

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References (top)

[1] J. Marchini, B. Howie, S. Myers, G. McVean and P. Donnelly (2007) A new multipoint method for genome-wide association studies via imputation of genotypes. Nature Genetics 39 : 906-913 [Free Access PDF][Supplementary Material][News and Views Article]
[2] The Wellcome Trust Case Control Consortium (2007) Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447;661-78. PMID: 17554300 DOI: 10.1038/nature05911
[3] Chris C. A. Spencer, Zhan Su, Peter Donnelly, Jonathan Marchini (2009) Designing Genome-Wide Association Studies: Sample Size, Power, Imputation, and the Choice of Genotyping Chip. PLoS Genet 5(5). [Link]
[4] B. N. Howie, P. Donnelly and J. Marchini (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genetics 5(6): e1000529 [Open Access Article]
[5]. Z. Su, N. Cardin, WTCCC, P. Donnelly, J. Marchini (2009) A Bayesian method for detecting and characterizing allelic heterogeneity and boosting signals in genome-wide association studies. Statistical Science 24(4) 430-450. [
Article pdf] [Supplementary Material]
[6]. J. Marchini and B. Howie (2010) Genotype imputation for genome-wide association studies. Nature Reviews Genetics [Link]

































































Contact Information (top)

Here are the contact email addresses for each package. If more than one address is given please include them all in your email.

IMPORTANT : If you are having a problem with one of the programs please include details of the following when you email.
(a) the version number of the program and the type of computer you are running the program on e.g. SNPTEST v2.1.0 Mac OSX 10.6
(b) include the precise command line(s) you have used
(c) include any log file and/or screen output from the program
(d) sometimes it may be necessary for us to obtain a copy of the data you have so please be prepared to supply this. Otherwise, we may not be able to diagnose the problem.

IMPUTE
howie.bryan <at> gmail.com
marchini <at> stats.ox.ac.uk
SNPTEST
marchini <at> stats.ox.ac.uk
gavin.band <at> well.ox.ac.uk
GENECLUSTER
zhan <at> well.ox.ac.uk
niallcwork <at> googlemail.com
marchini <at> stats.ox.ac.uk
HAPGEN
zhan <at> well.ox.ac.uk
marchini <at> stats.ox.ac.uk
META
jsliu <at> stats.ox.ac.uk
marchini <at> stats.ox.ac.uk
QCTOOL
gavin.band <at> well.ox.ac.uk
CHIAMO
chris.spencer <at> well.ox.ac.uk
marchini <at> stats.ox.ac.uk
GTOOL
cfreeman <at> well.ox.ac.uk




























































Licence (top)

Genetics Software Suite, (c) 2007, The University of Oxford (the "Software")
 
The Software remains the property of the University of Oxford ("the University").

The Genetics Software Suite consists of the software

CHIAMO, GTOOL, IMPUTE, SNPTEST, HAPGEN, GENECLUSTER, BIA, HAPQUEST

The Software is distributed "AS IS" under this Licence solely for non-commercial use in the hope that it will be useful, but in order that the University as a charitable foundation protects its assets for the benefit of its educational and research purposes, the University makes clear that no condition is made or to be implied, nor is any warranty given or to be implied, as to the accuracy of the Software, or that it will be suitable for any particular purpose or for use under any specific conditions. Furthermore, the University disclaims all responsibility for the use which is made of the Software. It further disclaims any liability for the outcomes arising from using  the Software.


The Licensee agrees to indemnify the University and hold the University harmless from and against any and all claims, damages and liabilities asserted by third parties (including claims for negligence) which arise directly or indirectly from the use of the Software or the sale of any products based on the Software.
 
No part of the Software may be reproduced, modified, transmitted or transferred in any form or by any means, electronic or mechanical, without the express permission of the University. The permission of the University is not required if the said reproduction, modification, transmission or transference is done without financial return, the conditions of this Licence are imposed upon the receiver of the product, and all original and amended source code is included in any transmitted product. You may be held legally responsible for any copyright infringement that is caused or encouraged by your failure to abide by these terms and conditions. 

You are not permitted under this Licence to use this Software commercially. Use for which any financial return is received shall be defined as commercial use, and includes (1) integration of all or part of the source code or the Software into a product for sale or license by or on behalf of Licensee to third parties or (2) use of the Software or any derivative of it for research with the final aim of developing software products for sale or license to a third party or (3) use of the Software or any derivative of it for research with the final aim of developing non-software products for sale or license to a third party, or (4) use of the Software to provide any service to an external organisation for which payment is received. If you are interested in using the Software commercially, please contact Isis Innovation Limited ("Isis"), the technology transfer company of the University, to negotiate a licence. Contact details are: innovation@isis.ox.ac.uk quoting reference DP3507.
































Contributors (top)

The following people (in alphabetical order) have made significant contributions to the development of this suite of tools and the methodology behind them :

Niall Cardin
Dan Davison
Peter Donnelly
Teresa Ferriera
Colin Freeman
Joanne Gale
Bryan Howie
Jonathan Marchini
Simon Myers
Gil McVean
Chris Spencer
Zhan Su
YY Teo
Damjan Vukcevic

We use the software libraries and routines: Boost, Cephes, Newmat, Newran and SNPHWE.
All of these libraries are free for commercial use.
Please see their respective webpages for precise licencing details.




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