RAT – A software for Rapid Association Tests

RAT

:: DESCRIPTION

RAT (Rapid Association Test) is a software for testing association between single nucleotide polymorphisms (SNPs) and a disease. The main advantage of RAT is its ability to calculate accurately and quickly high significance disease association. For large data set and low p-values, RAT is 2-4 orders of magnitude faster than the standard permutation test.

::DEVELOPER

Ron Shamir’s lab

:: SCREENSHOTS

N/A

::REQUIREMENTS

  • Windows with Cygwin /Linux

:: DOWNLOAD

  RAT

:: MORE INFORMATION

Citation

Gad Kimmel and Ron Shamir.
A Fast Method for Computing High Significance Disease Association in Large Population-Based Studies.
Am. J. Hum. Genet. 2006

OVPDT – A Family-based Association Test for Sequencing Data

OVPDT

:: DESCRIPTION

OVPDT (Ordered Subset – Variable Threshold – Pedigree Disequilibrium Test) is a family-based association test using both common and rare variants and accounting for directions of effects for sequencing data.

::DEVELOPER

Statistical Genetics and Programming Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

 OVPDT

:: MORE INFORMATION

Citation

PLoS One. 2014 Sep 22;9(9):e107800. doi: 10.1371/journal.pone.0107800. eCollection 2014.
Family-based association test using both common and rare variants and accounting for directions of effects for sequencing data.
Chung RH, Tsai WY, Martin ER

OPTPDT – Family-based multi-SNP Association Test

OPTPDT

:: DESCRIPTION

OPTPDT (Optimal P-value Threshold Pedigree Disequilibrium Test)is a family-based multi-SNP association test. A variable p-value threshold algorithm is used in the test to select an optimal subset of SNPs that has the strongest association signals.

::DEVELOPER

Statistical Genetics and Programming Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

 OPTPDT

:: MORE INFORMATION

Citation

BMC Genomics. 2015 May 15;16:381. doi: 10.1186/s12864-015-1620-3.
A multi-SNP association test for complex diseases incorporating an optimal P-value threshold algorithm in nuclear families.
Wang YT, Sung PY, Lin PL, Yu YW, Chung RH

qMSAT – Quality-based Multivariate Score Association Test

qMSAT

:: DESCRIPTION

qMSAT is a powerful test that directly incorporates sequencing qualities in association tests with multiple rare variants. It allows for the adjustment of additional covariates and is robust towards the inclusion of noncausal variants and variants having effects with different magnitudes and directions. Furthermore, it can coherently account for missing genotypes and conjoin in a principled way individuals or variants sequenced at varying coverage depths.

::DEVELOPER

Zhi Wei

:: SCREENSHOTS

N/A

:: REQUIREMENTS

:: DOWNLOAD

 qMSAT

:: MORE INFORMATION

Citation

Nucleic Acids Res. 2012 Apr;40(8):e60. doi: 10.1093/nar/gks024. Epub 2012 Jan 19.
A powerful test for multiple rare variants association studies that incorporates sequencing qualities.
Daye ZJ, Li H, Wei Z.

RWAS / LRT 0.5 – Groupwise Association Test for Rare Variants

RWAS / LRT 0.5

:: DESCRIPTION

RWAS (Rare variant Weighted Aggregate Statistic) is a groupwise association test for identifying associations of groups of rare variants. RWAS groups variants and computes a weighted sum of differences in mutation counts between case and control individuals. Weights of RWAS are estimated from data to achieve nearly optimal power under a disease model in which all variants make an equally small contribution to population disease risk.

LRT (Likelihood Ratio Test) is a method that tries to identify which variants are causal by taking advantage of both prior information (of how likely each variant is functional) and data. LRT uses this information (of which variants are likely causal) to better detect associations of groups of rare variants.

::DEVELOPER

 Jae Hoon Sul

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Mac OsX / Windows
  • Java 

:: DOWNLOAD

 RWAS / LRT

:: MORE INFORMATION

Citation

Jae Hoon Sul, Buhm Han, Dan He, Eleazar Eskin.
An optimal weighted aggregated association test for identification of rare variants involved in common diseases.”
enetics March 2, 2011 genetics.110.125070

Jae Hoon Sul, Buhm Han, Eleazar Eskin.
“Increasing Power of Groupwise Association Test with Likelihood Ratio Test.”
In Proceedings of the Fifteenth Annual Conference on Research in Computational Biology (RECOMB-2011). Vancouver, Canada: March 28th-31st, 2011

AMELIA – Allele Matching Empirical Locus-specific Integrated Association test

AMELIA

:: DESCRIPTION

AMELIA (Allele Matching Empirical Locus-specific Integrated Association) is a program that employs allele matching to analyse the effects of rare variants within a specific locus.

::DEVELOPER

Dr Eleftheria Zeggini

:: SCREENSHOTS

N/A

:: REQUIREMENTS

:: DOWNLOAD

 AMELIA

:: MORE INFORMATION

LCMT – Multiple Genetic Markers Association test

LCMT

:: DESCRIPTION

LCMT is a small program performing “combining” association test over multiple genetic markers.LCMT implements the “combining” method for the association test over multiple genetic markers. It optimally utilizes the information from those markers. It is preferred over several competing tests, such as the Bonferroni procedure, the permutation procedure, the traditional χ2 procedure, the regression procedure (Hotelling T2 test) and the haplotype-based test.

::DEVELOPER

FBAT-Toolkit Team

:: SCREENSHOTS

Command Line

:: REQUIREMENTS

  • Windows / Linux/ Sunsparc stations

:: DOWNLOAD

LCMT

:: MORE INFORMATION

References

H zhou, L wei, X Xu, X Xu (2006) Combining association tests across multiple genetic markers in case-control studies