Computational and Disease Genomics

计算和疾病基因组学

• 批准号: MC_UU_00035/14
• 负责人: Chris Ponting
• 金额: $ 14.27万
• 依托单位: University of Edinburgh
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2023
• 资助国家: 英国
• 起止时间: 2023 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_UU_00035%2F14
• 关键词: Computational; Disease; Genomics

We are trying to find out the DNA letter changes that cause disease, more precisely complex disease and cancer. A DNA change that alters someone’s risk of complex disease is hard to pinpoint because it is present among a large set of other changes that do not alter risk: it is a needle in a haystack. We are taking an unconventional approach that presupposes that changes in how a specific protein binds DNA alters disease risk. At the beginning of the study we do not guess which disease this is, but instead allow the human DNA data to reveal this. Our cancer research compares changes to both the DNA and RNA (a read-out of DNA) of single cells, and builds up a picture of how cancer is triggered and how its cells evolve over time. We hope to study multiple cancers that co-occur, and so find out whether they compete or cooperate. Finally, we apply our expertise in evolution to predict the functions of proteins that are altered in genetic disease.

我们正试图找出导致疾病的DNA字母变化，更准确地说，是复杂的疾病和癌症。改变一个人患复杂疾病风险的DNA变化很难确定，因为它存在于一大堆不会改变风险的其他变化中：这是大海捞针。我们正在采取一种非常规的方法，假设特定蛋白质与DNA结合方式的变化会改变疾病风险。在研究开始时，我们并没有猜测这是哪种疾病，而是让人类DNA数据来揭示这一点。我们的癌症研究比较了单细胞的DNA和RNA （DNA的读出）的变化，并建立了癌症是如何触发的以及细胞是如何随时间进化的图像。我们希望研究同时发生的多种癌症，从而找出它们是竞争还是合作。最后，我们运用我们在进化方面的专业知识来预测遗传疾病中改变的蛋白质的功能。