Developing methods for the analysis of massively parallel sequencing data in family studies

开发家庭研究中大规模并行测序数据分析的方法

• 批准号: FT100100764
• 负责人: Prof Melanie Bahlo
• 金额: $ 49.34万
• 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: ARC Future Fellowships
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2014-12-31
• 项目状态: 已结题
• 来源: https://dataportal.arc.gov.au/RGS/Web/Grants/FT100100764
• 关键词: Developing; methods; analysis; massively; parallel

This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.

该项目将开发分析方法，以使用最新的高通量测序数据方法，即人类基因组字母表的字母。这些工具将被用来识别遗传性疾病家庭的因果突变，从而导致对这些家庭的诊断测试。