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A systematic approach to understand the functional consequences of non-protein coding risk regions.

机译:一种了解非蛋白质编码风险区域功能后果的系统方法。

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摘要

A primary goal of genetic association studies is to elucidate genes and novel biological mechanisms involved in disease. Recently, genome-wide association studies have identified many common genetic variants that are significantly associated with complex diseases such as cancer. In contrast to Mendelian disorders, a sizable fraction of the variants lies outside known protein-coding regions; therefore, understanding their biological consequences presents a major challenge in human genetics. Here we describe an integrated framework to allow non-protein coding loci to be annotated with respect to regulatory functions. This will facilitate identification of target genes as well as prioritize variants for functional testing.
机译:遗传关联研究的主要目的是阐明涉及疾病的基因和新的生物学机制。最近,全基因组关联研究已经发现许多与复杂疾病(例如癌症)显着相关的常见遗传变异。与孟德尔疾病相反,相当一部分变体位于已知的蛋白质编码区之外。因此,了解它们的生物学后果对人类遗传学提出了重大挑战。在这里,我们描述了一个集成的框架,以允许非蛋白质编码基因座被注释有关调节功能。这将有助于鉴定靶基因以及为功能测试确定变体的优先级。

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