Applying Next Generation Sequencing to family studies

将下一代测序应用于家庭研究

• 批准号: nhmrc : 1002098
• 负责人: Prof Melanie Bahlo
• 金额: $ 12.18万
• 依托单位: The Walter and Eliza Hall Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: Research Fellowships
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/applying-generation-sequencing-family-studies/108772
• 关键词: Applying; Next; Generation; Sequencing; family

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.

最近的技术进步可以以更便宜的成本确定一个人更长的DNA片段的DNA组成。我使用统计分析来确定人类基因组中包含突变的区域，这些突变会导致家族中的癫痫等疾病。这些区域含有500 - 1500万个碱基对。我们需要找到导致疾病的一个碱基对。本申请涉及新工具的开发，以利用新技术来鉴定突变。