PriorityPruner 0.1.4 – Prune a list of SNPs, while keeping/selecting SNPs of higher Priority

PriorityPruner 0.1.4

:: DESCRIPTION

PriorityPruner is a software program which can prune a list of SNPs that are in high linkage disequilibrium (LD) with other SNPs in the list, while preferentially keeping/selecting SNPs of higher priority (e.g., the most significant SNPs in a genome-wide association study).

::DEVELOPER

PriorityPruner team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux/ MacOsX / Windows
  • Java

:: DOWNLOAD

 PriorityPruner

:: MORE INFORMATION

SNPsnap – Identification and Annotation of matched SNPs

SNPsnap

:: DESCRIPTION

The SNPsnap webserver enables SNP-based enrichment analysis by providing matched sets of SNPs that can be used to calibrate background expectations.

::DEVELOPER

SNPsnap team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Web Browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation

SNPsnap: a web-based tool for identification and annotation of matched SNPs.
Pers TH, Timshel P, Hirschhorn JN.
Bioinformatics. 2014 Oct 13. pii: btu655.

LDsplit – Association Studies of Recombination Hotspots using SNPs

LDsplit

:: DESCRIPTION

LDsplit is an open source Java program that detects SNPs (single nulceotide polymorphisms) associated with meiotic recombination hotspots.

::DEVELOPER

Jie Zheng, Ph.D.

:: SCREENSHOTS

LDsplit

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • Java

:: DOWNLOAD

 LDsplit

:: MORE INFORMATION

Citation:

LDsplit: screening for cis-regulatory motifs stimulating meiotic recombination hotspots by analysis of DNA sequence polymorphisms.
Yang P, Wu M, Guo J, Kwoh CK, Przytycka TM, Zheng J.
BMC Bioinformatics. 2014 Feb 17;15:48. doi: 10.1186/1471-2105-15-48.

SNPHunter 2.22 – Search Alignment File for SNPs

SNPHunter 2.22

:: DESCRIPTION

SNPHunter: Searches an alignment file (e.g. AceParser output) for SNPs using multiple parameters and filters (works with AssemblyFilter) for quality, homopolymer runs, and alternative splicing/assembly error. Options to include Blast annotation and ORF information for codon position and synonomous/nonsynonymous amino acid changes and to generate population specific output.

::DEVELOPER

J. Cris Vera

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows

:: DOWNLOAD

 SNPHunter

:: MORE INFORMATION

MultAssoc – Test of Association of a Disease with a Group of SNPs

MultAssoc

:: DESCRIPTION

MultAssoc is a MATLAB software package for test of association of a disease with a group of SNPs after accounting for their interaction with another group of SNPs or environmental exposures. In addition to implementing two standard logistic regression based tests, the package implements a novel method, called TukAssoc, that uses the Tukey’s 1 d.f. model for interaction between two groups of covariates.

::DEVELOPER

 DCEG

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • Matlab

:: DOWNLOAD

 MultAssoc

:: MORE INFORMATION

Citation

Chatterjee N., Kalaylioglu Z., Moslehi R., Peters U., Wacholder S. (2006).
Powerful multilocus tests of genetic association in the presence of gene-gene and gene-environment interactions.
American Journal of Human Genetics, Vol. 79, 1002-16.

discoSnp 2.5.4 – Discovering SNPs without requiring any reference Genome

discoSnp 2.5.4

:: DESCRIPTION

Software discoSnp is designed for discovering Single Nucleotide Polymorphism (SNP) from raw set(s) of reads obtained with Next Generation Sequencers (NGS).

::DEVELOPER

Genome Analysis Toolbox with de-Bruijn graph (GATB)

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  •  Linux

:: DOWNLOAD

 discoSnp

 :: MORE INFORMATION

Citation

Mol Ecol Resour. 2014 Mar;14(2):393-400. doi: 10.1111/1755-0998.12179. Epub 2013 Nov 11.
Development of genomic resources for the tick Ixodes ricinus: isolation and characterization of single nucleotide polymorphisms.
Quillery E1, Quenez O, Peterlongo P, Plantard O.

FunciSNP 1.32.0 – Functional Non-coding Datasets with Genetic Association Studies to Identify Candidate Regulatory SNPs

FunciSNP 1.32.0

:: DESCRIPTION

FunciSNP integrates information from GWAS, 1000genomes and chromatin feature to identify functional SNP in coding or non-coding regions.

::DEVELOPER

FunciSNP  team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX
  • R
  • BioConductor

:: DOWNLOAD

 FunciSNP

:: MORE INFORMATION

Citation

FunciSNP: an R/bioconductor tool integrating functional non-coding data sets with genetic association studies to identify candidate regulatory SNPs.
Coetzee SG, Rhie SK, Berman BP, Coetzee GA, Noushmehr H.
Nucleic Acids Res. 2012 Oct;40(18):e139. doi: 10.1093/nar/gks542.

Chi8 v1 – GPU program for Detecting Significant Interacting SNPs with the Chi-square 8-df test

Chi8 v1

:: DESCRIPTION

Chi8 is a program that calculates the chi-square 8 degree of freedom test between all pairs of SNPs in a brute force manner on a Graphics Processing Unit.
Usman Roshan

::DEVELOPER

Usman Roshan

:: SCREENSHOTS

n/a

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

 Chi8

:: MORE INFORMATION

Citation

Chi8: a GPU program for detecting significant interacting SNPs with the Chi-square 8-df test.
Al-Jouie A, Esfandiari M, Ramakrishnan S, Roshan U.
BMC Res Notes. 2015 Sep 14;8:436. doi: 10.1186/s13104-015-1392-5.

JEPEG 0.2.0 / JEPEGMIX 0.1.0 – Joint Effect on Phenotype of eQTLs/functional SNPs associated with a Gene

JEPEG 0.2.0 /JEPEGMIX 0.1.0

:: DESCRIPTION

JEPEG is a novel software which uses only summary statistics and correlation structures estimated from a reference popluation, to i) impute the summary statistics at unmeasured eQTLs and ii) test for the joint effect of measured and imputed all eQTLs affecting a gene function/expression on a phenotype.

JEPEGMIX is a JEPEG extension for gene-level joint testing of functional variants.

::DEVELOPER

dleelab.

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

 JEPEG , JEPEGMIX

:: MORE INFORMATION

Citation

JEPEGMIX: gene-level joint analysis of functional SNPs in cosmopolitan cohorts.
Lee D, Williamson VS, Bigdeli TB, Riley BP, Webb BT, Fanous AH, Kendler KS, Vladimirov VI, Bacanu SA.
Bioinformatics. 2015 Oct 1. pii: btv567

JEPEG: a summary statistics based tool for gene-level joint testing of functional variants.
Lee D, Williamson VS, Bigdeli TB, Riley BP, Fanous AH, Vladimirov VI, Bacanu SA.
Bioinformatics. 2014 Dec 12. pii: btu816

PinSnps – Structural and Functional analysis of SNPs in the Context of Protein Interaction Networks

PinSnps

:: DESCRIPTION

PinSnps is an interactive tool for the analysis of common variants, disease-related single-nucleotide polymorphisms (SNPs), Post-Translational Modifications (PTMs) and related functional sites mapped onto human protein interaction networks. One can search for and retrieve information about SNPs data and interacting proteins of the query.

::DEVELOPER

Fraternali lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Web browser

:: DOWNLOAD

NO

:: MORE INFORMATION

Citation

Lu HC, Herrera Braga J, Fraternali F.
PinSnps: structural and functional analysis of SNPs in the context of protein interaction networks.
Bioinformatics. 2016 Aug 15;32(16):2534-6. doi: 10.1093/bioinformatics/btw153. Epub 2016 Mar 24. PMID: 27153707; PMCID: PMC4978923.