Adams School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Diagnostic and Biological Sciences, School of Dentistry, University of Minnesota, Minneapolis, MN, USA.
J Dent Res. 2021 Jul;100(8):785-789. doi: 10.1177/00220345211001850. Epub 2021 Mar 20.
Our ability to unravel the mysteries of human health and disease have changed dramatically over the past 2 decades. Decoding health and disease has been facilitated by the recent availability of high-throughput genomics and multi-omics analyses and the companion tools of advanced informatics and computational science. Understanding of the human genome and its influence on phenotype continues to advance through genotyping large populations and using "light phenotyping" approaches in combination with smaller subsets of the population being evaluated using "deep phenotyping" approaches. Using our capability to integrate and jointly analyze genomic data with other multi-omic data, the knowledge of genotype-phenotype relationships and associated genetic pathways and functions is being advanced. Understanding genotype-phenotype relationships that discriminate human health from disease is speculated to facilitate predictive, precision health care and change modes of health care delivery. The American Association for Dental Research Fall Focused Symposium assembled experts to discuss how studies of genotype-phenotype relationships are illuminating the pathophysiology of craniofacial diseases and developmental biology. Although the breadth of the topic did not allow all areas of dental, oral, and craniofacial research to be addressed (e.g., cancer), the importance and power of integrating genomic, phenomic, and other -omic data are illustrated using a variety of examples. The 8 Fall Focused talks presented different methodological approaches for ascertaining study populations and evaluating population variance and phenotyping approaches. These advances are reviewed in this summary.
在过去的 20 年中，我们对人类健康和疾病奥秘的揭示能力发生了巨大变化。高通量基因组学和多组学分析以及先进的信息学和计算科学工具的出现，为解码健康和疾病提供了便利。通过对大量人群进行基因分型，并结合使用“轻度表型分析”方法，以及使用“深度表型分析”方法对人群的较小子集进行评估，我们对人类基因组及其对表型的影响的理解不断深入。通过整合和联合分析基因组数据与其他多组学数据，我们正在推进基因型-表型关系以及相关遗传途径和功能的知识。对区分人类健康和疾病的基因型-表型关系的理解，有望促进预测性、精准医疗，并改变医疗保健模式。美国牙科研究协会秋季重点研讨会召集了专家讨论基因型-表型关系研究如何阐明颅面疾病和发育生物学的病理生理学。尽管该主题的广度不允许涉及牙科、口腔和颅面研究的所有领域（例如癌症），但通过各种示例说明了整合基因组、表型组和其他组学数据的重要性和力量。8 个秋季重点演讲介绍了用于确定研究人群和评估人群方差以及表型分析方法的不同方法学方法。在这篇综述中对这些进展进行了回顾。
