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SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS.

BMC bioinformatics | 2013

The capability of correlating specific genotypes with human diseases is a complex issue in spite of all advantages arisen from high-throughput technologies, such as Genome Wide Association Studies (GWAS). New tools for genetic variants interpretation and for Single Nucleotide Polymorphisms (SNPs) prioritization are actually needed. Given a list of the most relevant SNPs statistically associated to a specific pathology as result of a genotype study, a critical issue is the identification of genes that are effectively related to the disease by re-scoring the importance of the identified genetic variations. Vice versa, given a list of genes, it can be of great importance to predict which SNPs can be involved in the onset of a particular disease, in order to focus the research on their effects.

Pubmed ID: 23369106 RIS Download

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Associated grants

  • Agency: Telethon, Italy
    Id: TGT11D01

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PlantCyc (tool)

RRID:SCR_002110

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RRID:SCR_012773

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