ChroMoS: an integrated web tool for SNP classification, prioritization and functional interpretation.

ChroMoS: an integrated web tool for SNP classification, prioritization and functional interpretation.
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DOI:
10.1093/bioinformatics/btt356
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发表时间:
2013-09-01
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Manke T
Manke T
中科院分区:
其他
文献类型:
--
作者:
Barenboim M;Manke T

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摘要:全基因组关联研究和重测序项目揭示了越来越多的与疾病相关的 SNP,其中很大一部分是非编码的。尽管它们可能与疾病易感性和进展相关,但缺乏有关调控区域的信息阻碍了对其功能的评估。在这里,我们提出了一个网络服务器 ChroMoS(染色质修饰的 SNP),它结合了遗传和表观遗传数据,目的是促进 SNP 的分类、优先级排序和预测其功能后果。 ChroMoS 使用 SNP 和染色质状态的大型数据库,但允许用户提供他/她自己的遗传信息。基于 SNP 分类和交互优先级,用户可以使用两种预测工具计算多个 SNP 的功能影响,一种用于转录因子结合的差异分析 (sTRAP),另一种用于对 miRNA 结合具有潜在影响的 SNP (MicroSNiPer)。可用性:Web 服务器 ChroMoS 可在 http://epicenter.immunbio.mpg.de/services/chromos 上免费获取。联系方式:barenboim@ie-freiburg.mpg.de 或 manke@ie-freiburg.mpg.de
Summary: Genome-wide association studies and re-sequencing projects are revealing an increasing number of disease-associated SNPs, a large fraction of which are non-coding. Although they could have relevance for disease susceptibility and progression, the lack of information about regulatory regions impedes the assessment of their functionality. Here we present a web server, ChroMoS (Chromatin Modified SNPs), which combines genetic and epigenetic data with the goal of facilitating SNPs' classification, prioritization and prediction of their functional consequences. ChroMoS uses a large database of SNPs and chromatin states, but allows a user to provide his/her own genetic information. Based on the SNP classification and interactive prioritization, a user can compute the functional impact of multiple SNPs using two prediction tools, one for differential analysis of transcription factor binding (sTRAP) and another for SNPs with potential impact on binding of miRNAs (MicroSNiPer). Availability: Web server, ChroMoS, is freely available at http://epicenter.immunbio.mpg.de/services/chromos. Contact: barenboim@ie-freiburg.mpg.de or manke@ie-freiburg.mpg.de
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