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An out-of-core HDF5-based java implementation of whole-genome association studies using mixed models

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Jawamix5

JAWAMix5 stands for HDF5-based JAva implementation of Whole genome Association studies using Mixed model. The motivation of developing JAWAMix5 is to provide a platform-independent toolkit for mixed model-based association mapping that is scalable for very large dataset. It also supports simulation-based power estimations We intend to offer long-term maintenance for JAWAMix5 and continue adding our new developments into it.

In its current release, we provide 9 functions.

1. Installation

The toolkit is a batteries-included executable, therefore no installation is needed. Just copy the executable, jawamix5.jar, and run it using the standard command for java packages:

java –Xmx2g –jar /path/to/jawamix5.jar

This will prompt a help message. If that does not happen, please be so kind as to send us an email.

2. Functions

We provide ten analytical functions in version r1.1.0, the first release of JAWAMix5:

(1) An approximation of the original mixed model (Kang, Zaitlen et al. 2008), i.e., EMMAX (Kang, Sul et al. 2010)); (2) Local variance component analysis by traditional point estimations (Yang, Benyamin et al. 2010), however jointly accounting for population structure; (3) Local variance component analysis by Bayesian estimations; (4) Rare variants analysis using collapsing test (Li and Leal 2008) with or without population structure controlled; (5) Standard linear regression without mixed model; (6) Standard stepwise regression without mixed model; (7) Stepwise regression based on mixed model; (8) Nested Association Mapping (NAM). (McMullen, Kresovich et al. 2009). (9) Simulation-based Power Estimation for the design of Rare Disease sequencing studies

In addition to main analysis, we also provide assistant functions: (1) Calculate kinship for the whole genome or particular regions; (2) Import the input genome files (in CSV format) to HDF5 format; (3) Change the ACGT coded genotypes into number-coded genotypes and, by the way, filter out some non-qualified variants.

3. Commands and options

All the functions are used as:

java –Xmx2g –jar /path/to/jawamix5.jar function <options>

The details of the options of each function can be found in the detailed users manual.

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