Applying Next Generation Sequencing to family studies

最近的技术进步可以以更低的成本确定一个人的DNA组成，包括更长的DNA片段。我使用统计分析来识别人类基因组中含有突变的区域，这些突变会导致家族中的癫痫等疾病。这些区域包含500-1500万个碱基对。我们需要找到导致疾病的一个碱基对。这项申请涉及新工具的开发，以开发识别突变的新技术。

Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.