Diagnosis of Inherited Genetic Disorders Using DNA Reference Standards

使用 DNA 参考标准诊断遗传性遗传疾病

• 批准号: nhmrc : GNT1139107
• 负责人: A/Pr Marcel Dinger
• 金额: $ 69.08万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/diagnosis-inherited-genetic-reference-standards/1348205
• 关键词: Diagnosis; Inherited; Genetic; Disorders; Using

Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.

全基因组测序可以诊断导致遗传性疾病的突变，然而，测序和分析过程中的错误可能导致错误的诊断。我们建议开发反映重要疾病相关突变的合成DNA标准品。这些DNA标准品然后直接从患者DNA样品中加入，并在测序和分析期间作为内部对照，以提供更准确和可靠的诊断。