VPMBench – Test Bench for Variant Prioritization methods

VPMBench

:: DESCRIPTION

VPMBench automates the evaluation of variant prioritization methods by using a pipeline in which the methods are integrated as plugins.

::DEVELOPER

VPMBench team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Python

:: DOWNLOAD

VPMBench

:: MORE INFORMATION

Citation

Ruscheinski A, Reimler AL, Ewald R, Uhrmacher AM.
VPMBench: a test bench for variant prioritization methods.
BMC Bioinformatics. 2021 Nov 8;22(1):543. doi: 10.1186/s12859-021-04458-0. PMID: 34749640.

RAP – Rank Aggregation-based data Fusion for Gene Prioritization

RAP

:: DESCRIPTION

RAP is a rank aggregation-based data fusion approach for gene prioritization in plants. It can be used to perform the gene prioritization in Arabidopsis thaliana and 28 non-plant species.

::DEVELOPER

Ma Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows
  • R

:: DOWNLOAD

RAP

:: MORE INFORMATION

Citation

Zhai J, Tang Y, Yuan H, Wang L, Shang H, Ma C.
A Meta-Analysis Based Method for Prioritizing Candidate Genes Involved in a Pre-specific Function.
Front Plant Sci. 2016 Dec 15;7:1914. doi: 10.3389/fpls.2016.01914. PMID: 28018423; PMCID: PMC5156684.

ChroMoS – SNP Classification, Prioritization and Functional Interpretation

ChroMoS

:: DESCRIPTION

ChroMoS (Chromatin Modified SNPs) combines genetic and epigenetic data to facilitate SNP classification, prioritization and prediction of their functional effect.

::DEVELOPER

Bioinformatics and Next Generation Sequencing Group; Max Planck Institute of Immunobiology and Epigenetics

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Web Browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation

ChroMoS: an integrated web tool for SNP classification, prioritization and functional interpretation.
Barenboim M, Manke T.
Bioinformatics. 2013 Sep 1;29(17):2197-8. doi: 10.1093/bioinformatics/btt356.

maxLRc – Rare Variant Prioritization

maxLRc

:: DESCRIPTION

maxLRc is a likelihood ratio-based measure for the statistical component of ranking rare variants under a case-control study design that avoids the hypothesis-testing paradigm.

::DEVELOPER

Strug lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • R

:: DOWNLOAD

maxLRc

:: MORE INFORMATION

Citation

Li W, Dobbins S, Tomlinson I, Houlston R, Pal DK, Strug LJ.
Prioritizing rare variants with conditional likelihood ratios.
Hum Hered. 2015;79(1):5-13. doi: 10.1159/000371579. Epub 2015 Feb 3. PMID: 25659987; PMCID: PMC4759929.

EPSILON – eQTL Prioritization using Similarity Measures derived from Local Interaction Networks

EPSILON

:: DESCRIPTION

EPSILON is an extendable framework for eQTL prioritization, which mitigates the effect of highly connected genes and unreliable interactions by constructing a local network before a network-based similarity measure is applied to select the true causal gene.

::DEVELOPER

Lieven P.C. Verbeke lieven.verbeke@intec.ugent.be or jan.fostier@intec.ugent.be

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Matlab/C++

:: DOWNLOAD

  EPSILON

:: MORE INFORMATION

Citation:

Lieven P. C. Verbeke; Lore Cloots; Piet Demeester; Jan Fostier; Kathleen Marchal
EPSILON: an eQTL prioritization framework using similarity measures derived from local networks
Bioinformatics (2013) 29 (10): 1308-1316.

mirTarPri 1.0alpha – miRNA Target Prioritization method

mirTarPri 1.0alpha

:: DESCRIPTION

mirTarPri is a web toolkit for prioritising candidate mirRNA targets in the context of functional genomic data.

::DEVELOPER

mirTarPri team

:: SCREENSHOTS

n/a

:: REQUIREMENTS

  • Web Browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation:

PLoS One. 2013;8(1):e53685. doi: 10.1371/journal.pone.0053685. Epub 2013 Jan 9.
mirTarPri: improved prioritization of microRNA targets through incorporation of functional genomics data.
Wang P1, Ning S, Wang Q, Li R, Ye J, Zhao Z, Li Y, Huang T, Li X.

ProDiGe 0.3 – Prioritization of Disease Genes

ProDiGe 0.3

:: DESCRIPTION

ProDiGe is a free MATLAB implementation of an algorithm for gene prioritization or gene ranking.

::DEVELOPER

Centre for Computational Biology

:: SCREENSHOTS

 N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX
  • MATLAB

:: DOWNLOAD

 ProDiGe

:: MORE INFORMATION

Citation

F. Mordelet and J.-P. Vert.
ProDiGe: PRioritization Of Disease Genes with multitask machine learning from positive and unlabeled examples.
BMC Bioinformatics 2011, 12:389.

NetworkPrioritizer 1.01 – Network-based Prioritization of Candidate Disease Genes or other molecules

NetworkPrioritizer 1.01

:: DESCRIPTION

NetworkPrioritizer provides multiple features to rank individual nodes based on centrality measures according to their relevance to the rest of the network. This can be accomplished either globally or locally with regard to a set of seed nodes. The global approach is basically a standard centrality analysis, whereas the local approach reveals how important individual nodes are for the connections between the set of seed nodes and the rest of the network. A frequent application of NetworkPrioritizer is the prioritization of candidate disease genes. Here, genes known for a given disease constitute the seed set, and the nodes top-ranked as a result of applying NetworkPrioritizer are identified as promising putative disease genes. NetworkPrioritizer can be applied to both directed and undirected networks. It will, however, treat all edges as undirected for the centrality computations. Apart from the computation of centrality measures NetworkPrioritizer also offers useful tools for the comparison and aggregation of multiple rankings.

::DEVELOPER

NetworkPrioritizer team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX
  • Java
  • Cytoscape

:: DOWNLOAD

 NetworkPrioritizer

:: MORE INFORMATION

Citation

Bioinformatics. 2013 Jun 1;29(11):1471-3. doi: 10.1093/bioinformatics/btt164. Epub 2013 Apr 16.
NetworkPrioritizer: a versatile tool for network-based prioritization of candidate disease genes or other molecules.
Kacprowski T1, Doncheva NT, Albrecht M.

Endeavour 3.71 – Prioritization of Candidates Genes

Endeavour 3.71

:: DESCRIPTION

Endeavour is a software application for the computational prioritization of candidates genes, based on a set of training genes. It is made up of three stages: training, scoring and fusion. In the first stage, information about the training genes (genes already known to play a role in the process under study) are retrieved from numerous data sources in order to build models. It includes functionnal annotations, protein-protein interactions, regulatory information, expression data, sequence based data and literature mining data. In the second stage, the models are then used to score the candidate genes and to rank them according to their scores. Lastly, the rankings per data source are fused into a global ranking using order statistics. Endeavour is available for human, mouse, rat, fruit fly and worm.

::DEVELOPER

The Bioinformatics Research Group

:: SCREENSHOTS

:: REQUIREMENTS

  • Linux /  Windows / MacOsX
  • Java
:: DOWNLOAD

  Endeavour

:: MORE INFORMATION

Citation

Tranchevent L., Barriot R., Yu S., Van Vooren S., Van Loo P., Coessens B., Aerts S., De Moor B., Moreau Y.,
ENDEAVOUR update: a web resource for gene prioritization in multiple species“,
Nucl. Acids Res. (2008) 36 (suppl 2): W377-W384.

Aerts S, Vilain S, Hu S, Tranchevent L-C, Barriot R, et al. (2009)
Integrating large scale bioinformatics and forward genetics in Drosophila“.
PLoS Genet 5(1): e1000351. doi:10.1371/journal.pgen.1000351

FlyNet – Versatile Network Prioritization server for Drosophila Melanogaster

FlyNet

:: DESCRIPTION

FlyNet is a network prioritization server for the Drosophila melanogaster biology. The FlyNet web server is specialized for the generation of versatile hypothesis in Drosophila-based studies.

::DEVELOPER

NetBioLab, Yonsei University, Seoul, Korea.

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Web browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation

FlyNet: a versatile network prioritization server for the Drosophila community.
Shin J, Yang S, Kim E, Kim CY, Shim H, Cho A, Kim H, Hwang S, Shim JE, Lee I.
Nucleic Acids Res. 2015 Jul 1;43(W1):W91-7. doi: 10.1093/nar/gkv453.