论文标题

系统遗传学和衰老研究中的数据整合

Data integration in systems genetics and aging research

论文作者

Rapin, Alexis, Sleiman, Maroun Bou, Auwerx, Johan

论文摘要

在上个世纪的过程中,人类的预期寿命已大大改善。尽管这反映了卫生和医疗保健方面的全球改善,但这也意味着越来越多的人患有疾病,这些疾病通常在以后的生活中,例如阿尔茨海默氏症和动脉粥样硬化。因此,通过延迟或恢复这些与年龄有关的疾病的发展来增加健康状态已成为生物医学研究中的紧迫挑战。与年龄相关疾病的多因素性质使该领域的研究变得复杂。它们植根于复杂的生理机制,受每个人可能独有的可遗传,环境和生活方式因素影响。尽管高通量生物分子测定法的技术进步使研究人员能够在分子水平上调查个体生理学,整合有关其不同成分的信息,并且对个体变异的核算仍然是一个挑战。我们使用的是大量的OMIC和表型数据,这些数据和表型数据从BXD小鼠遗传多样性面板中得出,探讨了公平原则的良好数据管理实践如何与可解释的人工智能框架相结合,可以提供解决方案来破译与年龄相关疾病的复杂根源。这些事态发展将有助于提出创新的方法,以扩展全球老龄化的健康状况。

Human life expectancy has dramatically improved over the course of the last century. Although this reflects a global improvement in sanitation and medical care, this also implies that more people suffer from diseases that typically manifest later in life, like Alzheimer and atherosclerosis. Increasing healthspan by delaying or reverting the development of these age-related diseases has therefore become an urgent challenge in biomedical research. Research in this field is complicated by the multi-factorial nature of age-related diseases. They are rooted in complex physiological mechanisms impacted by heritable, environment and life-style factors that can be unique to each individual. Although technological advances in high-throughput biomolecular assays have enabled researchers to investigate individual physiology at the molecular level, integrating information about its different components, and accounting for individual variations remains a challenge. We are using a large collection of omics and phenotype data derived from the BXD mouse genetic diversity panel to explore how good data management practices, as fostered by the FAIR principles, paired with an explainable artificial intelligence framework, can provide solutions to decipher the complex roots of age-related diseases. These developments will help to propose innovative approaches to extend healthspan in the aging global population.

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