Construction of systematic tools forgenome analysesto determinegenes responsible for various disease model in rats

为了识别在疾病模型大鼠中观察到的表型相关基因，并确定产生这些表型的分子机制，我们改进了我们自制的大鼠外显子捕获系统，该系统可以轻松地以液相方式分析更大的外显子集。我们构建了一条有效的管道来分析下一代测序数据，这些数据具有更多的多态信息和大鼠的基因注释数据。通过将这些系统与连锁分析相结合，我们构建了有效的、系统的大鼠基因组分析工具。最后，我们将这个工具应用于一个新建立的具有独特表型的大鼠模型，并通过收集可能导致其表型的候选变异来验证我们系统的有效性。

In order to identify genes responsible for phenotypes observed in disease-model rats and determine molecular mechanisms producing those phenotypes, we modified our self-made rat exon capture system, which can easily analyze larger sets of exons in a liquid phase manner. We constructed an effective pipeline to analyze next-generation sequencing data with larger information of polymorphism and gene annotation data in rats. Through combining those systems with linkage analyses, we constructed effective and systematic tools for rat genome analysis. We finally applied this tool to a newly established rat model with unique phenotype, and validated usefulness of our system by collecting candidate variations possibly responsible for its phenotype.