Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Hum Mutat. 2012 May;33(5):777-80. doi: 10.1002/humu.22080.
In medical contexts, the word "phenotype" is used to refer to some deviation from normal morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical practice and medical research, and yet phenotypic descriptions in clinical notes and medical publications are often imprecise. Deep phenotyping can be defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The emerging field of precision medicine aims to provide the best available care for each patient based on stratification into disease subclasses with a common biological basis of disease. The comprehensive discovery of such subclasses, as well as the translation of this knowledge into clinical care, will depend critically upon computational resources to capture, store, and exchange phenotypic data, and upon sophisticated algorithms to integrate it with genomic variation, omics profiles, and other clinical information. This special issue of Human Mutation offers a number of articles describing computational solutions for current challenges in deep phenotyping, including semantic and technical standards for phenotype and disease data, digital imaging for facial phenotype analysis, model organism phenotypes, and databases for correlating phenotypes with genomic variation.
在医学领域，“表型”一词用于指代正常形态、生理或行为的某些偏差。表型分析在临床实践和医学研究中起着关键作用，但临床记录和医学出版物中的表型描述往往不够准确。深度表型可以定义为对表型异常的精确和全面分析，其中观察和描述了表型的各个组成部分。新兴的精准医学领域旨在根据具有共同疾病生物学基础的疾病亚类进行分层，为每个患者提供最佳的可用护理。此类亚类的全面发现，以及将这些知识转化为临床护理，将严重依赖于计算资源来捕获、存储和交换表型数据，以及依赖于复杂的算法将其与基因组变异、组学图谱和其他临床信息集成。《人类突变》特刊提供了许多描述深度表型当前挑战的计算解决方案的文章，包括表型和疾病数据的语义和技术标准、面部表型分析的数字成像、模式生物表型以及将表型与基因组变异相关联的数据库。
