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相关概念视频

Genomics02:02

Genomics

41.8K
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...
41.8K
Improving Translational Accuracy02:07

Improving Translational Accuracy

15.6K
Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
15.6K
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

158
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...
158
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

102
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
102
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

116
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...
116
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

86
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...
86

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相关实验视频

Updated: Apr 6, 2026

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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弥合基因组实施的差距:识别用户对精密脏病学的需求

Jerard Z Kneifati-Hayek1, Teena Zachariah2, Wooin Ahn2

  • 1Division of General Medicine, Department of Medicine, Columbia University, New York, USA.

Kidney international reports
|August 19, 2024
PubMed
概括

科医生面临着将基因组医学整合到护理中的挑战,并将成本和有限的基因组学经验作为关键障碍. 需要量身定制的决策支持工具来改善个性化科.

关键词:
临床决策支持 临床决策支持电子健康记录 电子健康记录遗传性脏病是一种遗传性脏病.基因组学实现的实施精准医学是一门精准医学.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Application of Laser Microdissection to Uncover Regional Transcriptomics in Human Kidney Tissue
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Application of Laser Microdissection to Uncover Regional Transcriptomics in Human Kidney Tissue

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相关实验视频

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Application of Laser Microdissection to Uncover Regional Transcriptomics in Human Kidney Tissue
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科学领域:

  • 基因组医学是基因组医学.
  • 腎臟病學 (nephrology) 是一種醫學.
  • 实施科学 实施科学

背景情况:

  • 基因组医学提供个性化科护理,但临床整合具有挑战性.
  • 基于电子健康记录 (EHR) 的临床决策支持 (CDS) 系统的影响有限.
  • 了解病学家面临的挑战对于有效的基因组资源实施至关重要.

研究的目的:

  • 识别脏学家在利用基因组资源方面面临的具体挑战.
  • 为准确科决策支持工具的开发提供信息.
  • 引导将基因组学纳入临床实践,以改善病结果.

主要方法:

  • 一项匿名电子调查分发给美国科医生.
  • 该调查以实施研究综合框架为指导,评估了实践特征,基因组资源使用,态度,知识和遗传测试决策因素.
  • 数据收集时间为2021年1月19日至2021年5月19日.

主要成果:

  • 分析了319项调查,主要来自成人科医生.
  • 受访者承认基因组资源的实用性,但在精密脏病学方面表现出不同的知识和自我有效性.
  • 基因测试的主要障碍包括成本/保险覆盖和有限的基因组学经验.

结论:

  • 科医生在使用基因组资源为患者护理时遇到特定的障碍.
  • 开发量身定制的干预措施和CDS系统对于有效的基因组集成至关重要.
  • 解决信息和工作流的需求将推动个性化科,并改善病的结果.