Studies of complex genetic diseases have revealed many risk factors of small effect, but the combined amount of heritability explained is still low. Genome-wide association studies are often underpowered to identify true effects because of the very large number of parallel tests. There is, therefore, a great need to generate data sets that are enriched for those markers that have an increased a priori chance of being functional, such as markers in genomic regions involved in gene regulation. ReMo-SNPs is a computational program developed to aid researchers in the process of selecting functional SNPs for association analyses in user-specified regions and/or motifs genome-wide. The useful feature of automatic selection of genotyped markers in the user-provided material makes the output data ready to be used in a following association study. In this article we describe the program and its functions. We also validate the program by including an example study on three different transcription factors and results from an association study on two psychiatric phenotypes. The flexibility of the ReMo-SNPs program enables the user to study any region or sequence of interest, without limitation to transcription factor binding regions and motifs. The program is freely available at: http://www.neuro.ki.se/ReMo-SNPs/.

中文翻译：

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ReMo-SNP：一种新的软件工具，用于识别全基因组区域和基序的多态性。

对复杂遗传病的研究揭示了许多影响较小的危险因素，但对遗传力的解释总量仍然较低。由于大量的平行测试，全基因组关联研究通常不足以确定真正的效果。因此，非常需要生成丰富的数据集，以丰富那些具有增加的先验机会发挥功能的标记，例如参与基因调控的基因组区域中的标记。ReMo-SNP 是一种计算程序，旨在帮助研究人员选择功能性 SNP，以便在用户指定的区域和/或全基因组基序中进行关联分析。在用户提供的材料中自动选择基因分型标记的有用功能使得输出数据可用于以下关联研究。在本文中，我们描述该程序及其功能。我们还通过包括对三种不同转录因子的示例研究以及对两种精神病表型的关联研究的结果来验证该程序。ReMo-SNPs 程序的灵活性使用户能够研究任何感兴趣的区域或序列，而不限于转录因子结合区域和基序。该程序可免费获取：http://www.neuro.ki.se/ReMo-SNPs/。