在癌症免疫治疗临床试验中用于高可信度生物标志物的模块化和基于云的生物信息管道
Cu Nguyen1, Trinh Nguyen1, Gloria Trivitt2
1The Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology, National Cancer Institute, Rockville, Maryland, United States of America.
PloS one
|August 26, 2025
概括
癌症免疫数据中心增强了其生物信息管道, 通过改进的数据分析,确保可靠的癌症生物标志物发现和个性化医疗.
科学领域:
- 生物信息学
- 基因组学
- 癌症研究
背景情况:
- 癌症免疫监测和分析中心 - 癌症免疫数据中心 (CIMAC-CIDC) 网络标准化分子测试和生物信息学分析,以推进癌症免疫治疗.
- 最近CIDC迁移到国家癌症研究所 (NCI),需要改进管道.
研究的目的:
- 增强现有的整个外体测序 (WES) 和RNA测序 (RNA-Seq) 生物信息管道.
- 适应不断变化的生物信息标准并确保数据分析的连续性.
主要方法:
- 使用Snakemake和Docker实现了模块化工作流程.
- 使用基于云的技术在谷歌云平台 (GCP) 上部署.
- 使用开源工具开发管道.
主要成果:
- 实现了改进的可复制性,精度和变种调用回忆.
- 证明了增强的转录量化和融合检测准确性.
- 根据已确定的真实情况进行验证.
结论:
- 建立了一个可扩展的框架,用于统一的多原子分析.
- 确保生物信息学工作流程的连续性和可靠性.
- 促进了癌症生物标志物发现和个性化医疗的进步.
相关概念视频
Mouse Models of Cancer Study
4.7K
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
4.7K
Targeted Cancer Therapies
7.0K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.0K
Combination Therapies and Personalized Medicine
4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.9K
Tumor Immunotherapy
2.5K
Immunotherapy is a treatment that boosts or manipulates the immune system to fight diseases, including cancer. For instance, by stimulating an immune response through vaccinations against viruses that cause cancers, like hepatitis B virus and human papillomavirus, these diseases can be prevented. Nonetheless, some cancer cells can avoid the immune system due to their rapid mutation and division. The immune response to many cancers involves three phases: elimination, equilibrium, and escape.
2.5K


