Resources for Comparative Mendelian Disease Genomics

High-throughput DNA sequence analysis and mutation detection technologies are key processes for understanding genetic illnesses and diagnosing them in the clinic. However, in a significant percentage of cases sequencing attempts fail to deliver a plausible disease gene. This research study is designed to refine mutation detection approaches in mice where mutation discovery efforts are supported by allied approaches that cannot reasonably be used for human studies. Once refined, the improved approaches can once again be applied clinically, translating into improved public health by providing a better understanding of human genetic illness and more efficient and accurate diagnosis for patients and families.

高通量DNA序列分析（High-throughput DNA sequence analysis）与突变检测技术，是解析遗传疾病并开展临床诊断的核心流程。然而，在相当比例的临床案例中，测序尝试无法定位到与疾病相关的可信致病基因。本研究旨在优化小鼠模型中的突变检测方法：此类研究中，突变发现工作可借助无法合理应用于人类研究的辅助技术手段推进。待方法优化完善后，改良后的技术可再次应用于临床场景，通过深化对人类遗传疾病的认知、为患者与家属提供更高效精准的诊断服务，最终助力公共卫生水平的提升。