基因组学成本计算工具:通过交叉场景比较来提高成本效益的考虑
Marco Marklewitz1, Alexandr Jaguparov2, Aude Wilhelm3
1FIND, Geneva, Switzerland.
Frontiers in public health
|January 30, 2025
概括
基因组学成本计算工具 (GCT) 有助于估计病原体基因组监测的成本. 它表明,更高的样本吞吐量大大降低了每个样本的成本,有助于可持续的公共卫生工作.
科学领域:
- 公共卫生 公共卫生
- 基因组学就是基因组学.
- 流行病学 流行病学
背景情况:
- 由于COVID-19,下一代测序 (NGS) 能力在全球范围内扩大,为其他传染病监测提供了机会.
- 可持续的基因组监测至关重要,特别是在低收入和中等收入国家,需要进行可靠的成本估计.
研究的目的:
- 开发和验证基因组监测的系统性成本估计方法.
- 在公共卫生实验室评估基因组学成本计算工具 (GCT) 的准确性,实用性和功能性.
主要方法:
- 基因组学成本计算工具 (GCT) 是通过五个全球卫生组织的合作开发的.
- 在非洲,地中海东部和世卫组织欧洲地区的公共卫生实验室中试行了GCT.
- 试点演习评估了GCT用于验证过去的支出,常规使用,成本优化和扩展测序服务.
主要成果:
- 试点数据显示,每个样本的成本大幅降低,样本吞吐量增加.
- 在GCT允许详细的成本估计,预算,并为测序和生物信息学规划.
- 研究结果强调了基于样本吞吐量优化测序平台的经济效益.
结论:
- 对于实验室来说,GCT是一个宝贵的资产,可以提高基因组监测的成本效益和战略规划.
- 该工具支持可持续的资金用于传染病监测和疫情调查.
- 通过使用短读和长读技术,GCT提供了对常规NGS实施成本的见解.
相关概念视频
Evolutionary Relationships through Genome Comparisons
5.7K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.7K
Next-generation Sequencing
87.2K
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....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
87.2K
Genomics
35.8K
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...
35.8K
Genome-wide Association Studies-GWAS
12.4K
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...
12.4K


