临床护理中的基因组
Olaf Riess1,2,3, Marc Sturm4, Benita Menden4
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.
NPJ genomic medicine
|March 15, 2024
概括
在临床环境中实施常规基因组测序 (GS) 和预测基因组学具有挑战性. 本研究概述了机构级GS的关键支柱和流程,为个性化健康整合提供了一个模型.
科学领域:
- 基因组医学是基因组医学.
- 临床基因组学 临床基因组学
- 精准医学的实施
背景情况:
- 基因组测序 (GS) 对于精准医学来说越来越重要.
- 在临床环境中扩展GS和基因组学提出了重大实施挑战.
研究的目的:
- 确定常规基因组测序的基本支柱和过程.
- 促进预测基因组学和多基因组学的临床实施.
主要方法:
- 介绍了两项临床实施研究:Genome First和Ge-Med.
- 分析测试物流,患者护理,数据报告和基础设施方面的经验和经验.
主要成果:
- 鉴定基因组测序在机构上扩展基因组测序的关键组件.
- 开发一个综合临床护理和基因组分析模型.
结论:
- 临床护理和基因组分析的单一来源模型可以促进基于omics的个性化健康.
- 提出的框架为其他机构采用常规GS的可扩展方法提供了一个可扩展的方法.
相关概念视频
Genomics
36.3K
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...
36.3K
Human Genetics
566
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
566
Issues And Trends In Healthcare Delivery System
5.6K
The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
5.6K
Genomic DNA in Eukaryotes
46.9K
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
46.9K
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...
GWAS does not require the identification of the target gene involved in...
13.4K
Genetic Screens
4.9K
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...
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...
4.9K


