St John's Institute of Dermatology, King's College London, London, SE1 9RT, UK.
Centre for Gene Therapy and Regenerative Medicine, King's College London, London, SE1 9RT, UK.
Stem Cell Reports. 2022 May 10;17(5):1033-1047. doi: 10.1016/j.stemcr.2022.03.019. Epub 2022 Apr 28.
Induced pluripotent stem cells (iPSCs) are valuable in disease modeling because of their potential to expand and differentiate into virtually any cell type and recapitulate key aspects of human biology. Functional genomics are genome-wide studies that aim to discover genotype-phenotype relationships, thereby revealing the impact of human genetic diversity on normal and pathophysiology. In this review, we make the case that human iPSCs (hiPSCs) are a powerful tool for functional genomics, since they provide an in vitro platform for the study of population genetics. We describe cutting-edge tools and strategies now available to researchers, including multi-omics technologies, advances in hiPSC culture techniques, and innovations in drug development. Functional genomics approaches based on hiPSCs hold great promise for advancing drug discovery, disease etiology, and the impact of genetic variation on human biology.
诱导多能干细胞（iPSCs）在疾病建模中非常有价值，因为它们具有扩增和分化为几乎任何细胞类型的潜力，并能重现人类生物学的关键方面。功能基因组学是一项旨在发现基因型-表型关系的全基因组研究，从而揭示人类遗传多样性对正常和病理生理学的影响。在这篇综述中，我们认为人类诱导多能干细胞（hiPSCs）是功能基因组学的有力工具，因为它们为研究群体遗传学提供了体外平台。我们描述了研究人员现在可用的尖端工具和策略，包括多组学技术、hiPSC 培养技术的进步以及药物开发方面的创新。基于 hiPSCs 的功能基因组学方法在推进药物发现、疾病病因以及遗传变异对人类生物学的影响方面具有巨大的潜力。
