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相关概念视频

Genomics02:02

Genomics

35.6K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
35.6K
Genetic Screens02:46

Genetic Screens

4.6K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.6K
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

264
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
264
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

160
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
160
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

129
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
129
Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

1.4K
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
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相关实验视频

Updated: May 7, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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用于药物的基因组.

David R Bentley1

  • 1The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. drb@sanger.ac.uk

Nature
|May 28, 2004
PubMed
概括

人类基因组序列几乎完整和可用,但需要高质量的注释用于医疗应用. 进一步测序,实验分析和表型数据对于推进基因组医学至关重要.

科学领域:

  • 基因组学就是基因组学.
  • 生物信息学是一种生物信息学.
  • 医学遗传学 医学遗传学

背景情况:

  • 人类基因组序列是一个几乎完整的,自由可访问的资源.
  • 它的现状在临床医学中直接应用时提出了挑战.
  • 基因研究的进步是由这些基因组数据驱动的.

研究的目的:

  • 评估人类基因组序列对医疗应用的准备程度.
  • 确定将基因组数据转化为临床实践所需的步骤.
  • 突出高质量的基因组注释和数据集成的重要性.

主要方法:

  • 审查人类基因组测序和注释的当前状态.
  • 分析识别医学相关遗传变异的策略.
  • 评估将基因组信息与表型数据整合的要求.

主要成果:

  • 人类基因组序列是一个强大的资源,但需要进一步精细化用于医疗用途.
  • 功能序列和变化的高质量的注释是必不可少的.
  • 需要增加基因组测序,实验验证和表型数据.

结论:

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  • 人类基因组尚未完全准备好用于广泛的医学应用.
  • 全面的注释和数据集成对于释放其临床潜力至关重要.
  • 对注释基因组的用户友好访问将促进生物医学研究和实践的创新.