The origins and evolution of ancient genomic structural variants in hominins

这项研究探索了人类的遗传变异，特别是以前研究不足的结构变异，如大DNA片段的缺失和复制。这项研究将关于原始人适应和进化的知识从遥远的过去推进到现在，预期的结果强调了几十万年前全人类共同的遗传遗产。该项目通过培训、方法开发和合作支持结构变异和人类学基因组学的研究。通过有计划的研讨会，该领域的学者可以讨论迅速和有效地传播各种人类学数据集和计算方法的挑战和机会。该项目还作为一个框架，继续培训不同的本科生和研究生学员群体，并与公众接触，促进STEM培训和人类学基因组学，特别是通过与布法罗大学基因组、环境和微生物组卓越中心的合作。基因组结构变异是哺乳动物基因组中大的遗传片段的缺失、重复、倒置和易位，由于方法学上的挑战和研究这些类型的变异的成本，一直不是人类学遗传学的主要关注焦点。然而，随着新技术使研究这些变异变得更加可行，新的研究表明，结构变异对人类进化的广泛影响和以前被低估的影响。这项研究提出了关于平衡和正向选择作为维持人类谱系中结构变异的过程的假设，并为后续研究提供了机会，以调查结构变异的功能影响，其中一些可能具有生物医学相关性。这项研究有可能改变我们对最近人类进化和特定结构变异在塑造人类生物变化中的作用的理解。这一奖项反映了NSF的法定使命，并通过使用基金会的智力优势和更广泛的影响审查标准进行评估，被认为值得支持。

This study explores hominin genetic variation, specifically focusing on previously understudied structural variants such as deletions and duplications of large DNA segments. The research advances knowledge about hominin adaptations and evolution from the distant past into the present, with anticipated outcomes emphasizing the shared genetic legacy of all humanity going back hundreds of thousands of years. The project supports the study of structural variants and anthropological genomics through training, methods development, and collaboration. Through planned workshops, scholars in the field can discuss the challenges and opportunities for swiftly and effectively disseminating diverse anthropological datasets and computational approaches. The project also serves as a framework to continue the training of a diverse undergraduate and graduate trainee community, as well as engage with the public to promote STEM training and anthropological genomics, especially through collaborations with the Genome, Environment, and Microbiome Center of Excellence at the University at Buffalo. Genomic structural variants, which are deletions, duplications, inversions, and translocations of large genetic segments in mammalian genomes, have not been a major focus in anthropological genetics because of methodological challenges and the cost of studying these types of variants. However, as new technologies make studying these variants more feasible, new research suggests a broad and previously underappreciated effect of structural variants on human evolution. The study addresses hypotheses about balancing and positive selection as processes maintaining structural variants in the human lineage and generates opportunities for follow-up research to investigate the functional impact of structural variants, some of which may have biomedical relevance. The study has the potential to be transformative in our understanding of recent human evolution and the role of specific structural variants in shaping human biological variation.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.