灵长类动物基因组学是理解人类进化和疾病基本方面的关键。然而，目前仅有不到500多种现存灵长类物种中的少数物种拥有基因多样性和功能基因组数据集。正在努力通过对灵长类进化树上的基因组、基因多态性和差异以及功能景观的表征来实现共同的努力。由此产生的数据集将使基因型与表型之间产生联系，并提供有关灵长类性状（包括人类疾病）基因遗传的新见解。在本文中，我们描述了现有的基因组组装以及遗传变异和功能基因组数据集。我们强调了一些样本获取方面的挑战。最后，我们探讨了单细胞功能基因组学和诱导多能干细胞来源的器官样品技术进步将如何促进我们理解灵长类生物学的分子基础。© 2023. Springer Nature Limited.

Primate genomics holds the key to understanding fundamental aspects of human evolution and disease. However, genetic diversity and functional genomics data sets are currently available for only a few of the more than 500 extant primate species. Concerted efforts are under way to characterize primate genomes, genetic polymorphism and divergence, and functional landscapes across the primate phylogeny. The resulting data sets will enable the connection of genotypes to phenotypes and provide new insight into aspects of the genetics of primate traits, including human diseases. In this Review, we describe the existing genome assemblies as well as genetic variation and functional genomic data sets. We highlight some of the challenges with sample acquisition. Finally, we explore how technological advances in single-cell functional genomics and induced pluripotent stem cell-derived organoids will facilitate our understanding of the molecular foundations of primate biology.© 2023. Springer Nature Limited.