Genomics Approach to orofacial clefts focusing theubiquitin-proteasome system

下一代测序仪(NGS)可以比定量PCR更全面、更准确地分析样品。因此，作者开始构建NGS数据的数据分析工作流程。利用该工作流程，包括作者在内的研究小组成功地找到了导致紫外线敏感综合征A的UVSSA基因。作者还发布了Ruby的数据库访问库，Ruby UCSC API。作者计划使用Build工作流来完成对口腔裂样的分析。

Next generation sequencers (NGS) can analyze samples more comprehensively and more accurately than quantitative PCR. Thus, the author started to build data analysis workflow for NGS data. Using the workflow, the research team including the author succeeded to find the UVSSA gene causing UV sensitive syndrome A. The author also published database accessing library for Ruby, the Ruby UCSC API. The author plan to finish analysis of orofacial cleft samples using build workflows.