比较基因组学是对生物体内和生物体内的遗传信息进行比较,以了解进化,结构,和基因的功能,蛋白质,和非编码区(Sivashankari和Shanmughavel,Bioinformation1:376-8,2007).测序技术和组装算法的进步导致了对大基因组进行测序的能力,并提供了大量用于比较基因组分析的数据。可以利用比较分析来系统地探索和评估物种之间的生物关系和进化,帮助理解基因的结构和功能,并更好地了解疾病和潜在的药物靶标。随着我们对遗传学知识的扩展,比较基因组学可以帮助在更广泛的生命树中识别新兴的模式生物,积极影响人类健康。这种影响包括,但不限于,人畜共患疾病研究,治疗学的发展,微生物组研究,异种移植,肿瘤学,和毒理学。尽管比较基因组学取得了进展,围绕数量出现了新的挑战,质量保证,注释,以及基因组数据和元数据的互操作性。需要新的工具和方法来应对这些挑战并满足研究人员的需求。本文重点介绍了美国国立卫生研究院(NIH)比较基因组学资源(CGR)如何解决比较基因组学进一步影响人类健康的机会,并应对研究人员面临的日益复杂的挑战。
Comparative genomics is the comparison of genetic information within and across organisms to understand the evolution, structure, and function of genes, proteins, and non-coding regions (Sivashankari and Shanmughavel, Bioinformation 1:376-8, 2007). Advances in sequencing technology and assembly algorithms have resulted in the ability to sequence large genomes and provided a wealth of data that are being used in comparative genomic analyses. Comparative analysis can be leveraged to systematically explore and evaluate the biological relationships and evolution between species, aid in understanding the structure and function of genes, and gain a better understanding of disease and potential drug targets. As our knowledge of genetics expands, comparative genomics can help identify emerging model organisms among a broader span of the tree of life, positively impacting human health. This impact includes, but is not limited to, zoonotic disease research, therapeutics development, microbiome research, xenotransplantation, oncology, and toxicology. Despite advancements in comparative genomics, new challenges have arisen around the quantity, quality assurance, annotation, and interoperability of genomic data and metadata. New tools and approaches are required to meet these challenges and fulfill the needs of researchers. This paper focuses on how the National Institutes of Health (NIH) Comparative Genomics Resource (CGR) can address both the opportunities for comparative genomics to further impact human health and confront an increasingly complex set of challenges facing researchers.