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Integration of multidimensional splicing data and GWAS summary statistics for risk gene discovery

机译:多维拼接数据和集成GWAS摘要统计信息对风险基因的发现

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2021 SEP 23 (NewsRx) - By a News Reporter-Staff News Editor at Disease Prevention Daily - According to news reporting based on a preprint abstract, our journalists obtained the following quote sourced from biorxiv.org: "A common strategy for the functional interpretation of genome-wide association study (GWAS) findings has been the integrative analysis of GWAS and expression data. "Using this strategy, many association methods (e.g., PrediXcan and FUSION) have been successful in identifying trait-associated genes via mediating effects on RNA expression. "However, these approaches often ignore the effects of splicing, which carries as much disease risk as expression. Compared to expression data, one challenge to detect associations using splicing data is the large multiple testing burden due to multidimensional splicing events within genes. Here, we introduce a multidimensional splicing gene (MSG) approach, which consists of two stages: 1) we use sparse canonical correlation analysis (sCCA) to construct latent canonical vectors (CVs) by identifying sparse linear combinations of genetic variants and splicing events that are maximally correlated with each other; and 2) we test for the association between the genetically regulated splicing CVs and the trait of interest using GWAS summary statistics.
机译:2021年9月23日(NewsRx)——由一个新闻记者新闻编辑在日常——疾病预防根据新闻报道基于预印本抽象,我们记者获得以下引用来自biorxiv.org:“一个共同的战略功能的解释全基因组关联研究(GWAS)结果GWAS的综合分析表达数据。协会的方法(例如,PrediXcan和融合)已成功地识别通过中介影响trait-associated基因RNA表达。忽略拼接的影响,多的疾病风险的表情。表达数据,检测的一个挑战使用数据拼接大关联由于多维多个测试的负担在基因剪接事件。多维剪接基因(味精)的方法,包括两个阶段:1)我们用稀疏的吗典型相关分析(sCCA)构建潜在的标准向量(CVs)识别稀疏线性组合的基因最大限度的变异和剪接事件相互关联;之间的关联基因调控拼接使用GWAS CVs和感兴趣的特征汇总统计。

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