Synthetic DNA Standards for Clinical Genome Sequencing

临床基因组测序的合成 DNA 标准品

• 批准号: nhmrc : 1136067
• 负责人: A/Pr Marcel Dinger
• 金额: $ 58.82万
• 依托单位: Garvan Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: Development Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/synthetic-dna-standards-genome-sequencing/1318375
• 关键词: Synthetic; DNA; Standards; Clinical; Genome

Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.

基因组测序可以诊断导致人类疾病的广泛突变。然而，测序和分析过程中的错误可能导致错误的诊断。我们建议开发基因突变的合成表征，然后将其添加到患者的DNA样本中，并在整个临床测序工作流程中作为内部对照。这些控制提高了突变检测的准确性和可靠性，从而改善了诊断和更好的患者护理。