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SNPsnap: a Web-based tool for identification and annotation of matched SNPs

机译:SNPsnap:用于识别和注释匹配的SNP的基于Web的工具

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摘要

>Summary: An important computational step following genome-wide association studies (GWAS) is to assess whether disease or trait-associated single-nucleotide polymorphisms (SNPs) enrich for particular biological annotations. SNP-based enrichment analysis needs to account for biases such as co-localization of GWAS signals to gene-dense and high linkage disequilibrium (LD) regions, and correlations of gene size, location and function. The SNPsnap Web server enables SNP-based enrichment analysis by providing matched sets of SNPs that can be used to calibrate background expectations. Specifically, SNPsnap efficiently identifies sets of randomly drawn SNPs that are matched to a set of query SNPs based on allele frequency, number of SNPs in LD, distance to nearest gene and gene density.>Availability and implementation: SNPsnap server is available at .>Contact: >Supplementary information: are available at Bioinformatics online.
机译:>摘要::全基因组关联研究(GWAS)之后的重要计算步骤是评估疾病或与性状相关的单核苷酸多态性(SNP)是否能丰富特定的生物学注释。基于SNP的富集分析需要考虑偏差,例如GWAS信号在基因致密和高连锁不平衡(LD)区的共定位,以及基因大小,位置和功能的相关性。 SNPsnap Web服务器通过提供可用于校准背景期望值的匹配SNP集,来启用基于SNP的富集分析。具体来说,SNPsnap可基于等位基因频率,LD中SNP的数量,到最近基因的距离和基因密度,有效地识别与一组查询SNP匹配的随机绘制SNPs。>可用性和实现:可以从以下服务器获取服务器。>联系方式: >补充信息:可以从在线生物信息学获得。

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