Golem: A disruptive platform to access and interactively analyse genetic data

能否从基因和健康数据中提取有用的信息是未来十年的关键挑战。人类基因组数据的大小每七个月就会翻一番，可能很快就会超过天文学、YouTube和Twitter等其他大数据生成器。尽管这些数据正在给医学和新疗法和诊断学的发展带来革命性的变化，但充分发挥这项重大投资的潜力取决于我们从其中释放临床可操作知识的能力。关键是确保数据访问和分析能力在一系列具有不同能力的研究人员和机构中大众化，同时确保个人级别的数据安全。然而，这方面的障碍依然存在，因为数据的大小、复杂性和访问受限(涉及隐私问题、经济利益、研究限制和多机构数据碎片化)。该项目将导致开发一个颠覆性的商业平台，改变数据的访问方式和从中提取价值的方式。这将在几个领域产生影响，包括：*提高药物开发的效率。*通过减少药物副作用和个性化药物的全面改进来减少NHS的开支。*提高高科技工作的生产率。*遗传学学术研究的全面改善。包括帮助理解为什么新冠肺炎对不同的人有不同的影响。*通过使用更高效的计算算法来减少大数据中心的碳足迹。*赋予个人权力来控制他们的数据发生了什么。如果成功，这个项目将有助于英国实现在遗传学领域处于领先地位的雄心，并为未来十年发展一个重要的高科技产业创造合适的结构。这是一个高度可扩展的项目，目标是在计算机科学、基因和流行病学数据分析以及人类健康的非常重要的交汇点上快速增长的国际市场。它也是及时的，解决了政府内部的一个重要挑战，即四大挑战以及创新英国地平线工具中强调的许多目标。总体而言，如果我们的雄心成功，我们将为英国作为相关参与者的抱负做出重大贡献，为未来十年即将到来的挑战提供解决方案，同时加强和支持GDP，发展和吸引国际人才，并在全球创造高质量的就业机会。

Being able to extract useful information from genetic and health data is a key challenge for the next decade.Human genomic data is doubling in size every seven months and may soon exceed other Big Data generators such as astronomy, YouTube and Twitter. Although this data is revolutionising medicine and development of new therapeutics and diagnostics, reaching the full potential of this substantial investment relies on our ability to unlock clinically actionable knowledge from it. The key to this is ensuring data access and analysis capabilities are democratised over a range of researchers and institutions with different capabilities, whilst ensuring individual level data is kept safe. However, obstacles to this remain, owing to the data's unprecedented size, complexity, and restricted access (relating to privacy concerns, economic interests, research limitations, and multi-institutional data fragmentation).This project will lead to the development of a disruptive commercial platform changing how data is accessed and how value is extracted from it. This will have impacts in several areas, including:* Increasing efficiency of drug development.* Reducing NHS expenditure, by reducing drug side effects and overall improvement of personalised medicine.* Increasing productivity of high tech jobs.* Overall improvement of academic research in genetics. Including helping to understand why COVID-19 differently impacts different people.* Reducing carbon footprint in big datacenters through the use of much more efficient computing algorithms.* Empowering the individuals to control what happens with their data.If successful, this project will contribute to the UK's ambitions of leading the field of genetics and creating the right fabric for developing an important, high-tech industry for the next decade.This is a highly scalable project targeting a rapidly growing international market at the very important intersection between computer science, genetic and epidemiological data analysis, and human health. It is also timely, addressing an important challenge that is within the government four Grand Challenges as well as many objectives highlighted in the Innovate UK Horizons Tool. Overall, if successful in our ambitions, we could significantly contribute to the UK's aspirations as a relevant player offering solutions for the next decade's forthcoming challenges whilst strengthening and supporting GDP, develop and attract international talent, and globally create high quality jobs.