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相关概念视频

Next-generation Sequencing03:00

Next-generation Sequencing

88.9K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
88.9K
Genomics02:02

Genomics

36.4K
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...
36.4K
RNA-seq03:21

RNA-seq

10.0K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.0K
Sanger Sequencing01:57

Sanger Sequencing

754.5K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
754.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.4K
Analysis of Population Pharmacokinetic Data01:12

Analysis of Population Pharmacokinetic Data

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Analysis of population pharmacokinetic data involves studying the behavior of drugs within diverse populations to understand their pharmacokinetic parameters. Traditional pharmacokinetic methods typically involve collecting samples from a few individuals and estimating these parameters. While these methods are commonly used, they have limitations in capturing the variability in drug response among individuals or heterogeneous populations. Population pharmacokinetics is employed to address these...
264

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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

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通过下一代测序来审问药物遗传学.

Yuan Ji1,2, Sherin Shaaban1,2

  • 1Department of Pathology, University of Utah, Salt Lake City, UT, United States.

The journal of applied laboratory medicine
|January 3, 2024
PubMed
概括

药物遗传学 (PGx) 测试正在转向全基因组和全外基因组测序. 本文概述了临床实验室开发基于下一代测序 (NGS) 的PGx测试的技术考虑,以获得更广泛的药物反应见解.

科学领域:

  • 基因组医学是基因组医学.
  • 药物基因组学 药物基因组学
  • 分子诊断学 分子诊断

背景情况:

  • 药物遗传学 (PGx) 研究遗传变异对药物反应的影响.
  • 分子技术的进步使PGx分析能够在整个外体和整个基因组尺度上进行.
  • 目前的临床PGx测试通常依赖于向基因型定型,并采用了下一代测序 (NGS).

研究的目的:

  • 讨论临床实验室开发基于NGS的PGx测试的技术考虑.
  • 突出基于NGS的PGx测试设计和实施中的挑战和机遇.
  • 为解决生物信息管道,变种分类和临床实用性报告.

主要方法:

  • 对开发基于NGS的PGx测定技术方面的审查.
  • 讨论对等位基和双型组分配的生物信息学策略.
  • 考虑罕见变异分类和临床报告.

主要成果:

  • NGS平台为PGx测试提供了增强的功能,包括全基因组和全外基因组测序.
  • 开发强大的生物信息管道对于准确的PGx等位基因和双型基因分配至关重要.
  • 需要对实践进行标准化,以最大限度地提高基于NGS的PGx分析的实用性.

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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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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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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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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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结论:

  • 由于技术进步和成本降低,临床实验室不可避免地过渡到基于NGS的PGx测试.
  • 认识到NGS的潜力和局限性对于成功的临床实施至关重要.
  • 实验室和专业协会之间的合作对于开发一致和有效的PGx测试实践至关重要.