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Co-authored-by: Julian Stamp <[email protected]>
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lorinanthony and jdstamp authored Nov 29, 2022
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[![R CMD check](https://github.com/lcrawlab/mvMAPIT/actions/workflows/check-standard.yaml/badge.svg)](https://github.com/lcrawlab/mvMAPIT/actions/workflows/check-standard.yaml)
[![Docker Image CI](https://github.com/lcrawlab/mvMAPIT/actions/workflows/docker-image.yml/badge.svg)](https://github.com/lcrawlab/mvMAPIT/actions/workflows/docker-image.yml)

Find the full package documentation including examples, and articles here: [Multivariate MAPIT Documentation](https://lcrawlab.github.io/mvMAPIT/).
Find the full package documentation including examples and articles here: [Multivariate MAPIT Documentation](https://lcrawlab.github.io/mvMAPIT/).


## The multivariate MArginal ePIstasis Test (mvMAPIT)
Expand Down Expand Up @@ -35,7 +35,7 @@ epistatic effects, one can identify genetic variants that are involved in
epistasis without the need to identify the exact partners with which the variants
interact – thus, potentially alleviating much of the statistical and computational
burden associated with conventional explicit search based methods. Our proposed
mvMAPIT builds upon this strategy by taking of correlation structures between
mvMAPIT builds upon this strategy by leveraging correlation structures between
traits to improve the identification of variants involved in epistasis. We
formulate mvMAPIT as a multivariate linear mixed model and develop a multi-trait
variance component estimation algorithm for efficient parameter inference and
Expand All @@ -51,7 +51,7 @@ genetic variation that is shared between multiple traits. The key idea behind th
concept of marginal epistasis is to identify variants that are involved in
epistasis while avoiding the need to explicitly conduct an exhaustive search over
all possible pairwise interactions. As an overview of mvMAPIT and its
corresponding software implementation, we will assume that we have access to an
corresponding software implementation, we will assume that we have access to a
GWA study on `N` individuals denoted as `D = {X,Y}` where `X` is an `N x J` matrix
of genotypes with `J` denoting the number of SNPs (each of which is encoded as
`{0,1,2}` copies of a reference allele at each locus `j`) and `Y` denoting a `N x D`
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The goal of mvMAPIT is to identify variants that have non-zero interaction effects
with any other variant in the data. To accomplish this, we examine each SNP in
turn and assess the null hypothesis that the variance component is zero. In
practice, we use a computationally efficient method of moments algorithm calledMQS
turn and assess the null hypothesis that its corresponding variance component is zero. In
practice, we use a computationally efficient method of moments algorithm called MQS from Zhou (2017)[^3]
to estimate model parameters and to carry out calibrated statistical tests within
mvMAPIT.

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R is a widely used, free, and open source software environment for
statistical computing and graphics. The most recent version of R can be
downloaded from the [Comprehensive R Archive Network
(CRAN)](https://cran.r-project.org/) CRAN provides precompiled binary
(CRAN)](https://cran.r-project.org/). CRAN provides precompiled binary
versions of R for Windows, macOS, and select Linux distributions that
are likely sufficient for many users' needs. Users can also install R
from source code; however, this may require a significant amount of
Expand Down Expand Up @@ -145,7 +145,7 @@ Unfortunately, macOS does not currently support OpenMP under the default
compiler. A work around to use OpenMP in R on macOS can be found
[here](https://thecoatlessprofessor.com/programming/openmp-in-r-on-os-x/).
mvMAPIT can be compiled without OpenMP, but we recommend using it if
applicable.
applicable for scalability.

### Known Issues
- When your compiler changes, some R package dependencies might need to be recompiled. This is likely the case if the compilation error explicitly names an R package in the local library.
Expand All @@ -162,7 +162,7 @@ applicable.

## Questions and Feedback
For questions or concerns with the MAPIT functions, please contact
[Lorin Crawford](mailto:[email protected]) or
[Lorin Crawford](mailto:[email protected]) or
[Julian Stamp](mailto:[email protected]).

We appreciate any feedback you may have with our repository and instructions.
Expand All @@ -172,7 +172,11 @@ We appreciate any feedback you may have with our repository and instructions.
## References
[^1]: L. Crawford, P. Zeng, S. Mukherjee, X. Zhou (2017). Detecting
epistasis with the marginal epistasis test in genetic mapping
studies of quantitative traits. *PLoS Genet*. **13** (7): e1006869.
studies of quantitative traits. *PLoS Genet*. **13**(7): e1006869.
<https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1006869>

[^2]: J. Stamp, A. DenAdel, D. Weinreich, L. Crawford (2022). Multivariate MAPIT.

[^3]: X. Zhou (2017). A unified framework for variance component estimation with summary statistics
in genome-wide association studies. *Ann Appl Stat*. **11**(4): 2027-2051.
<https://projecteuclid.org/journals/annals-of-applied-statistics/volume-11/issue-4/A-unified-framework-for-variance-component-estimation-with-summary-statistics/10.1214/17-AOAS1052.full>

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