Abondio Paolo, Cilli Elisabetta, Luiselli Donata
Laboratory of Ancient DNA, Department of Cultural Heritage, University of Bologna, Via degli Ariani 1, 48121 Ravenna, Italy.
Life (Basel). 2023 Jun 9;13(6):1360. doi: 10.3390/life13061360.
A pangenome is a collection of the common and unique genomes that are present in a given species. It combines the genetic information of all the genomes sampled, resulting in a large and diverse range of genetic material. Pangenomic analysis offers several advantages compared to traditional genomic research. For example, a pangenome is not bound by the physical constraints of a single genome, so it can capture more genetic variability. Thanks to the introduction of the concept of pangenome, it is possible to use exceedingly detailed sequence data to study the evolutionary history of two different species, or how populations within a species differ genetically. In the wake of the Human Pangenome Project, this review aims at discussing the advantages of the pangenome around human genetic variation, which are then framed around how pangenomic data can inform population genetics, phylogenetics, and public health policy by providing insights into the genetic basis of diseases or determining personalized treatments, targeting the specific genetic profile of an individual. Moreover, technical limitations, ethical concerns, and legal considerations are discussed.
泛基因组是给定物种中存在的常见和独特基因组的集合。它整合了所有采样基因组的遗传信息，从而产生了大量多样的遗传物质。与传统基因组研究相比，泛基因组分析具有若干优势。例如，泛基因组不受单个基因组物理限制的约束，因此能够捕获更多的遗传变异性。由于泛基因组概念的引入，可以使用极其详细的序列数据来研究两个不同物种的进化历史，或者一个物种内的种群在基因上如何不同。随着人类泛基因组计划的开展，本综述旨在讨论围绕人类遗传变异的泛基因组优势，这些优势随后围绕泛基因组数据如何通过深入了解疾病的遗传基础或确定个性化治疗方法（针对个体的特定基因特征）来为群体遗传学、系统发育学和公共卫生政策提供信息展开。此外，还讨论了技术限制、伦理问题和法律考量。
