Precision medicine: Glossary of terms

AI / Artificial intelligence*

自动算法可以复制人类的智慧和学习能力，并具有存储能力, analyse and draw conclusions from information.

Biomarker*

A biological indicator, such as a genetic or molecular characteristic of a patient, which can be found in tissue, blood, urine or other bodily fluids. 生物标志物可以通过测量来识别潜在的病理或生理过程.

Biopsy*

从人体中提取组织样本以分析某种疾病迹象的程序.

Chronic disease (vs. long term illness)^†

A disease where symptoms persist for an extended period of time, usually a year or longer, 通常进展缓慢，需要持续的医疗照顾. 与长期疾病相比，慢性疾病无法治愈，而且并非所有疾病都危及生命. Examples of chronic diseases include chronic kidney disease, asthma and chronic obstructive pulmonary disease.

CRISPR-Cas9^¶

CRISPR-Cas9是一种天然存在的保护系统，存在于细菌中，用于对抗和摧毁入侵的病毒. 科学家们对这个系统进行了改造，以促进细胞中DNA的精确基因编辑. 

Diagnostic test*

用于帮助确定病人是否适合某种药物的测试. They can also be used to identify a disease or its cause.

DNA^¶

脱氧核糖核酸(DNA)包含了决定生物体发育和功能的遗传信息.

Gene^¶

遗传的基本单位，由父母传给孩子，包含DNA序列.

Genetic*

Traits or processes relating to a particular gene.

Genome^¶

The entire DNA information contained within a cell.

Genetics / Genomics*

The study of genes and heredity, 特别是某些特征从一代传到下一代的方式.
 

基因组学是对细胞内全部DNA信息(基因组)的研究。, including both coding and noncoding regions. 这项研究帮助医疗专业人员发现为什么有些人会因某些感染而生病, environmental factors, and behaviours, while other people don’t.

Genotype^¶

The genetic make-up of an individual organism. 

Heterogeneity / Heterogeneous*

Diversity of characteristics within an individual or disease group. These could include differing causes of diseases, biomarkers or symptoms.

Knowledge graph^#

通过分析大量健康和患者相关数据来查看基因目标之间潜在的相互作用的“活”疾病地图, expression and disease. Relationships are detected and analysed using machine learning and AI. By discovering previously unknown patterns in the data, 科学家们能够在一系列复杂的疾病中得出更好更快的结论, for example, identifying new targets to prioritise. 

Machine learning*

人工智能的一个分支，使用算法来处理数据. It improves automatically with experience, ‘learning over time’, 帮助在庞大的数据集中找到联系和结论.g. patient records) far more rapidly than a human would ever be able to.

Metabolomics*

The study of all chemical processes involving metabolites.

Multi-omics^§

一种生物分析方法，将来自不同组学组的多个数据集组合在一起，包括基因组学, proteomics, transcriptomics, and metabolomics.

Mutation^¶

基因变异生物体DNA序列在基因组中特定位置的改变.

Novel target^††

A previously unidentified or untargeted molecule, 研究蛋白质或受体，看看药物或疗法是否能相互作用，改变其功能或行为.

Patient cohorts*

A group of patients that share a common trait or condition. 患者队列用于建立全面的生物医学数据库或生物银行，其中包括来自疾病患者的临床和分子数据，以提供驱动研究和药物发现的分子见解.

Patient subgroup / population**

A specific group of individuals with common characteristics e.g., specific disease drivers, ethnicity, age or risk factors.

Pharmacogenomics^¶

精准医学的一个重要方面是探索DNA如何影响一个人对药物的反应.

Phenotype^¶

个体中由其基因型和环境共同作用而产生的一组可观察到的特征(如基因型和环境).g., height and hair colour).

Precision medicine^||

精准医疗涉及开发针对疾病潜在驱动因素的治疗方法，以便在正确的时间为正确的患者提供正确的治疗. 

Proteomics*

The study of the entirety of proteins within an organism or cell.

Sequencing^¶

确定生物聚合物序列/一级结构的技术. For example, DNA测序的目的是确定单个患者DNA链的四个核苷酸碱基的确切顺序.

Single nucleotide polymorphism (SNP)^¶

由基因组中特定位置的单个核苷酸(碱基对)引起的DNA变异.

Targeted therapy / treatment*

专门设计或选择用于与特定分子靶标相互作用/干扰的.

Transcriptomics*

The study of the complete set of RNA molecules within a cell.

Variant*

在遗传学中，基因变异是指两个基因组之间DNA序列的任何差异.