Primates display a wide range of phenotypic variation underlaid by complex genetically regulated mechanisms. The links among DNA sequence, gene function, and phenotype have been of interest from an evolutionary perspective, to understand functional genome evolution and its phenotypic consequences, and from a biomedical perspective to understand the shared and human-specific roots of health and disease. Progress in methods for characterizing genetic, transcriptomic, and DNA methylation (DNAm) variation is driving the rapid development of extensive omics resources, which are now increasingly available from humans as well as a growing number of nonhuman primates (NHPs). The fast growth of large-scale genomic data is driving the emergence of integrated tools and databases, thus facilitating studies of gene functionality across primates. This review describes NHP genomic resources that can aid in exploration of how genes shape primate phenotypes. It focuses on the gene expression trajectories across development in different tissues, the identification of functional genetic variation (including variants deleterious for protein function and regulatory variants modulating gene expression), and DNAm profiles as an emerging tool to understand the process of aging. These resources enable comparative functional genomics approaches to identify species-specific and primate-shared gene functionalities associated with health and development.

中文翻译：

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非人类灵长类动物健康与发育功能基因组研究的资源。

灵长类动物表现出广泛的表型变异，这些变异是复杂的基因调控机制所支持的。从进化的角度来看，DNA序列，基因功能和表型之间的联系引起人们的兴趣，以了解功能性基因组进化及其表型后果，并从生物医学的角度来了解健康和疾病的共同根源和特定于人类的根源。表征遗传，转录组和DNA甲基化（DNAm）变异的方法的进步正推动着广泛的组学资源的快速发展，如今，人类学以及越来越多的非人类灵长类动物（NHP）都可以使用这些资源。大规模基因组数据的快速增长推动了集成工具和数据库的出现，从而促进了灵长类动物基因功能的研究。这篇综述描述了可以帮助探索基因如何塑造灵长类动物表型的NHP基因组资源。它侧重于不同组织发育过程中的基因表达轨迹，功能遗传变异的鉴定（包括对蛋白质功能有害的变异和调节基因表达的调节变异），以及DNAm谱作为理解衰老过程的新兴工具。这些资源使比较功能基因组学方法能够识别与健康和发展相关的物种特异性和灵长类共有的基因功能。鉴定功能遗传变异（包括对蛋白质功能有害的变异和调节基因表达的调控变异），并将DNAm图谱作为了解衰老过程的新兴工具。这些资源使比较功能基因组学方法能够识别与健康和发展相关的物种特异性和灵长类共有的基因功能。鉴定功能遗传变异（包括对蛋白质功能有害的变异和调节基因表达的调节变异），以及DNAm图谱作为了解衰老过程的新兴工具。这些资源使比较功能基因组学方法可以识别与健康和发展相关的物种特异性和灵长类共有的基因功能。