精密医学:术语表

AI /人工智能*

Automated algorithms that can replicate human intelligence and learning with the ability to store, 分析并从信息中得出结论.

生物标志物*

生物指示剂, 比如病人的基因或分子特征, 哪些可以在组织中找到, blood, 尿液或其他体液. Biomarkers can be measured to identify underlying pathological or physiological processes.

Biopsy*

Procedure where a tissue sample is taken from the body to analyse for indications of a disease.

慢性病(vs). 长期疾病)^†

症状持续一段时间的疾病, 通常是一年或更长时间, generally slow in progression and which requires ongoing medical attention. In contrast to long-term illnesses, chronic diseases have no cure, and not all are life-threatening. 慢性疾病的例子包括慢性肾病, 哮喘和慢性阻塞性肺病.

CRISPR-Cas9^¶

CRISPR-Cas9 is a naturally occurring protection system found in bacteria to combat and destroy invading viruses. This system has been adapted by scientists to facilitate precise gene editing of DNA in cells. 

诊断测试*

Tests used to help determine the suitability of a patient for a certain medicine. 它们也可以用来识别疾病或其原因.

DNA^¶

Deoxyribonucleic acid (DNA) contains the genetic information that defines the development and function of a living organism.

Gene^¶

A basic unit of hereditary which passes from parent to child containing a sequence of DNA.

Genetic*

与特定基因有关的特征或过程.

Genome^¶

细胞内包含的全部DNA信息.

遗传学/基因组学*

遗传学对基因和遗传的研究, specifically the way that certain traits are passed down from one generation to the next.
 

Genomics is the study of the entirety of the DNA information within a cell (the genome), 包括编码区和非编码区. This research helps medical professionals to discover why some people get sick from certain infections, 环境因素, 和行为, 而其他人却没有.

Genotype^¶

个体生物的基因组成. 

异质性/异质性*

个体或疾病组内特征的多样性. 这些可能包括不同的疾病原因、生物标志物或症状.

知识图谱^#

‘Living’ maps of disease that analyse vast amounts of health and patient-related data to see potential interactions between gene targets, 表达与疾病. 使用机器学习和人工智能检测和分析关系. 通过发现数据中以前未知的模式, scientists are able to draw better and faster conclusions across a range of complex diseases, 例如, 确定新的优先目标. 

机器学习*

A branch of artificial intelligence which uses algorithms to process data. 它会随着经验自动提高, 随着时间的推移而学习, helping to find connections and conclusions within expansive data sets (e.g. 病人记录)远比人类更快.

代谢组学*

代谢物学对涉及代谢物的所有化学过程的研究.

Multi-omics^§

A biological analysis approach where multiple data sets from different omics groups are combined – including genomics, 蛋白质组学, 转录组, 和代谢组学.

Mutation^¶

An alteration in an organism’s DNA sequence at a specific location in the genome.

小说的目标^††

先前未被识别或未被定位的分子, protein or receptor being explored to see if a drug or therapy can interact and alter its function or behaviour.

病人组*

有共同特征或状况的一组病人. Patient cohorts are used to build comprehensive biomedical databases or biobanks which include clinical and molecular data from patients with diseases to provide molecular insights to drive research and drug discovery.

患者亚组/人群**

具有共同特征的一群人.g.、特定疾病驱动因素、种族、年龄或风险因素.

药物基因组学^¶

An important aspect of precision medicine that explores how DNA affects a person’s response to a drug.

Phenotype^¶

The set of observable traits in an individual that arise from a combination of its genotype and environment (e.g.、身高及发色).

精密医学^||

精密医学 involves developing therapies more targeted to underlying drivers of disease in order to match the right treatment to the right patient at the right time. 

蛋白质组学*

蛋白质遗传学对生物体或细胞内全部蛋白质的研究.

测序^¶

Techniques to determine the sequence / primary structure of a biological polymer. 例如, DNA sequencing aims to determine the exact order of the four nucleotide bases of a strand of DNA of an individual patient.

单核苷酸多态性(SNP)^¶

A DNA variation caused by a single nucleotide (base pair) at a specific position in the genome.

靶向治疗/治疗*

Specifically designed or selected to interact / interfere with particular molecular targets.

转录组*

RNA遗传学对细胞内全部RNA分子的研究.

Variant*

In genetics, a genetic variant refers to any difference in the DNA sequence between two genomes.