UNPHASED is a small, simple, Java based application specially designed to offer users a versatile tool for performing genetic association analysis.
This utility implements maximum-likelihood inference on haplotype and genotype effects while allowing for uncertain phase and missing genotypes.
Many of the commonly performed analyses are provided including transmission / disequilbrium tests, global and individual tests for haplotypes, tests that account for associations of nearby loci, tests of gene-gene interaction, adjustments for environmental covariates, genotype tests, comparison of risk between different haplotypes, and permutation tests.
(by using this utility you agree to the GNU General Public License)
UNPHASED Serial Key is a general-purpose tool for conducting statistical genetic association analysis under uncertain phase and missing genotype conditions.
UNPHASED implements the very popular Generalized (or
Maximum-likelihood) approach to association analysis.
One of the strengths of the ML approach is the unification of inference over haplotypes and genotypes, which leads to great flexibility for dealing with uncertain phase and missing genotypes.
Another strength of the ML approach is the ability to perform inference in the presence of multiple (related or unrelated) loci.
UNPHASED represents the 3x haplotype analysis approach (i.e. one-dimensional genotype) provided in the MERLIN package.
UNPHASED also implements the popular 2x haplotype ML approach provided in the TRANSMIT package.
Here we provide an example of how to conduct haplotype association analysis (assuming that haplotypes are estimated from a phased subset of the data).
The following 2 commands perform an association analysis of haplotypes H1 and H2.
UNPHASED is a fully open-source utility which can be downloaded free of charge at
Features:
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Ability to perform association analysis for Haplotypes (not only genotypes)
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The source code has been designed to be modular and easy to extend.
This is achieved by making use of the Java Builder Design pattern.
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Updates and new releases can be downloaded at
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Simple and concise installation instructions are included.
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UNPHASED can perform either global, individual or transmission tests (association between haplotypes).
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Any number of covariates can be handled.
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UNPHASED is very flexible and can handle different numbers of alleles (from 1 to 6) for each locus.
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Multiple populations can be considered (and optionally analyzed), and even multiple study designs (e.g. family, case/control, different family structures).
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It is possible to consider completely unrelated individuals as long as they are unrelated for at least one locus (i.e. we assume that the number of ancestors at each locus is infinite).
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Haplotype effects can either be taken as fixed or as random effects.
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The efficient use of parallel
Flexible, specialised and complete, UNPHASED Activation Code is a small, simple, Java based application specially designed to offer users a versatile tool for performing genetic association analysis.
This utility implements maximum-likelihood inference on haplotype and genotype effects while allowing for uncertain phase and missing genotypes.
Many of the commonly performed analyses are provided including transmission / disequilbrium tests, global and individual tests for haplotypes, tests that account for associations of nearby loci, tests of gene-gene interaction, adjustments for environmental covariates, genotype tests, comparison of risk between different haplotypes, and permutation tests.
UNPHASED Description:
Many of the most commonly performed tests for transmission disequilibrium, global and individual tests for haplotype association, tests that account for interactions between nearby loci, tests of gene-gene interaction, and adjustments for environmental covariates are provided in UNPHASED.
The complete methods are explained with ample reference to the literature,
as well as demonstrations using in-house data.
UNPHASED includes an efficient implementation of maximum-likelihood methods, allowing for complex corrections for missing data.
UNPHASED requires no prior knowledge of genetics or computation and does not need to be installed in the operating system.
It is therefore user-friendly and easy to install.
UNPHASED Description:
Flexible, specialised and complete, UNPHASED is a small, simple, Java based application specially designed to offer users a versatile tool for performing genetic association analysis.
This utility implements maximum-likelihood inference on haplotype and genotype effects while allowing for uncertain phase and missing genotypes.
Many of the commonly performed analyses are provided including transmission / disequilbrium tests, global and individual tests for haplotypes, tests that account for associations of nearby loci, tests of gene-gene interaction, adjustments for environmental covariates, genotype tests, comparison of risk between different haplotypes, and permutation tests.
UNPHASED Description:
Many of the most commonly performed tests for transmission disequilibrium, global and individual tests for haplotype association, tests that account for interactions between nearby loci, tests of gene-gene interaction, and adjustments for environmental covariates are provided in UNPHASED.
The complete methods are explained with ample reference to the literature,
as well as demonstrations using in-house data.
UNPHASED includes an efficient implementation of maximum-likelihood methods
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UNPHASED is a software package that can automatically perform a wide range of genetic association tests. The package implements maximum-likelihood inference of haplotype and genotype effects while allowing for uncertain phase and missing genotypes. It is developed in Java and it is platform independent, it can run on any computer with Java Runtime Environment (JRE) installed.
UNPHASED is designed in a way that the data can be structured either in its original order or after running the applyTransmissionTest() command (for unphased genotypes).
The structure of the input file and the way the data are passed to the application can be easily modified or extended.
UNPHASED has a lot of options and a comprehensive help.
It is freely available for non-commercial research. For commercial use, both a web version and a command-line version of the UNPHASED data structure are available.
Pairwise genome-wide LD and haplotype association analysis can be used to detect associations between genetic markers and disease risk. Association analyses can be performed using unphased genotype data or phased haplotype data.
The software Haploview (Barrett et al., 2005) is a well-known and widely used tool for analysing haplotype data. UNPHASED provides numerous haplotype based association tests. The pairwise LD test is implemented for haplotype frequencies extracted from the phased haplotype data.
The most obvious disadvantage of the pairwise LD test is that it does not exploit the full potential of haplotype based association studies. A pairwise test of association ignores all linkage disequilibrium (LD) between genetic markers. With a haplotype based test, knowledge of the haplotype structure allows for more powerful tests as the test takes into account the LD between genetic markers.
UNPHASED implements a wide range of tests which can be described as follows:
1. Transmission Test – the standard transmission disequilibrium test (TDT) for each marker.
2. Association Test of common haplotypes – a test of the joint effect of all common haplotypes. It is a composite test and does not depend on a priori knowledge of any particular haplotype (i.e. there is no need to know the frequencies of common haplotypes).
3. Association Test of Common Haplotypes – similar to the above, but it also tests for an association of each haplotype individually. It is equivalent to the standard association analysis of the frequency of any haplotype.
4. Association Test of
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UNPHASED: a genetic association analysis tool for data with uncertain phases, missing genotypes and alleles.
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Version 1.4.1: VERSION INFORMATION
* Date: Oct 11, 2004
* Description: An update of the new version, including documentation.
* Changes: Documentation.
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Version 1.4.0:
* Date: Jul 19, 2004
* Description:
This version includes the following new features:
* A new “t” type for testing transmissions/transversions, which is a
simple test that is appropriate for analysing the direction of
transmissions.
* New regression type – “HH”- which can be used for regression
analysis in which the phenotype is coded as both 0-1 and the
phenotype is treated as a haplotype.
* Code formatting: the code formatting has been improved.
* Documentation: a number of small documentation improvements
have been made, including font size improvements.
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Version 1.3.2:
* Date: Jun 17, 2004
* Description:
This version includes the following new features:
* A new option ‘randseed’ which will seed UNPHASED with a random
value. This is useful when initialising a new run with a known
seed.
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Version 1.3.1:
* Date: May 27, 2004
* Description:
This version includes the following new features:
* The code has been improved with associated documentation.
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Version 1.3.0:
* Date: May 3, 2004
* Description:
This version includes the following new features:
* The code for analysis is now less dependent on the
environment for which it has been written. The options that
operate on chromosome names and haplotype frequencies now
come from util. It makes it possible to use UNPHASED on other
systems. The support for external reading of datasets and
control files has also been improved.
* Documentation: The code documentation has been improved.
An interface has been added to generate R documentation.
An example is included that generates the introductory
documentation that UNPHASED requires.
* Bugfixes: The major changes have been fully implemented,
however a small number of minor bugs have been fixed.
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Version 1.2.2:
* Date: Mar 28, 2004
GAME INFORMATION
Operating System: Windows 7 or Windows 8.1
Windows 7 or Windows 8.1 Processor: Intel Core i5-4590, AMD Phenom II X4 965 or higher
Intel Core i5-4590, AMD Phenom II X4 965 or higher Memory: 8 GB RAM
8 GB RAM Graphics: Nvidia GeForce GTX 760/AMD Radeon HD 7850 or higher
Nvidia GeForce GTX 760/AMD Radeon HD 7850 or higher Hard Drive: 40 GB free space
40 GB free space Direct