Integrating population genetics, in silico and functional data to enable precision medicine in the epilepsies

整合群体遗传学、计算机数据和功能数据，实现癫痫的精准医疗

• 批准号: nhmrc : 1126877
• 负责人: Dr Slavé Petrovski
• 金额: $ 30.72万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: Career Development Fellowships
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/integrating-population-genetics-medicine-epilepsies/947875
• 关键词: Integrating; population; genetics; silico; functional

Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.

癫痫已被证明是一种非常容易遗传的神经疾病。然而，尽管我们现在经常在门诊患者中识别因果突变，但随着我们走向精确医学对一些患者来说正在成为现实的时期，理解哪些是促成的，哪些是良性背景变异的过程变得至关重要。这项工作将集中于汇集多个水平的数据，以探索预测癫痫变异的综合模型。