Lussier Yves A, Liu Yang
Section of Genetic Medicine, Department of Medicine, University of Chicago,Chicago, Illinois 60637, USA.
Proc Am Thorac Soc. 2007 Jan;4(1):18-25. doi: 10.1513/pats.200607-142JG.
The recent completion of the Human Genome Project has made possible a high-throughput "systems approach" for accelerating the elucidation of molecular underpinnings of human diseases, and subsequent derivation of molecular-based strategies to more effectively prevent, diagnose, and treat these diseases. Although altered phenotypes are among the most reliable manifestations of altered gene functions, research using systematic analysis of phenotype relationships to study human biology is still in its infancy. This article focuses on the emerging field of high-throughput phenotyping (HTP) phenomics research, which aims to capitalize on novel high-throughput computation and informatics technology developments to derive genomewide molecular networks of genotype-phenotype associations, or "phenomic associations." The HTP phenomics research field faces the challenge of technological research and development to generate novel tools in computation and informatics that will allow researchers to amass, access, integrate, organize, and manage phenotypic databases across species and enable genomewide analysis to associate phenotypic information with genomic data at different scales of biology. Key state-of-the-art technological advancements critical for HTP phenomics research are covered in this review. In particular, we highlight the power of computational approaches to conduct large-scale phenomics studies.
人类基因组计划的近期完成使得采用高通量“系统方法”来加速阐明人类疾病的分子基础,并随后推导出基于分子的策略以更有效地预防、诊断和治疗这些疾病成为可能。尽管改变的表型是基因功能改变最可靠的表现之一,但利用对表型关系的系统分析来研究人类生物学的研究仍处于起步阶段。本文重点关注新兴的高通量表型分析(HTP)表型组学研究领域,该领域旨在利用新型高通量计算和信息技术的发展来推导全基因组范围内的基因型-表型关联分子网络,即“表型组关联”。HTP表型组学研究领域面临着技术研发的挑战,即要生成计算和信息学方面的新型工具,使研究人员能够收集、访问、整合、组织和管理跨物种的表型数据库,并实现全基因组分析,将不同生物学尺度下的表型信息与基因组数据关联起来。本综述涵盖了对HTP表型组学研究至关重要的关键前沿技术进展。特别是,我们强调了计算方法在进行大规模表型组学研究方面的作用。