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相关概念视频

Genomics02:02

Genomics

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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...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

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Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
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Hazard Ratio01:12

Hazard Ratio

565
The hazard ratio (HR) is a widely used measure in clinical trials to compare the risk of events, such as death or disease recurrence, between two groups over time. It reflects the ratio of hazard rates—the instantaneous risk of the event occurring—between a treatment group and a control group. This measure provides valuable insights into the relative effectiveness of a treatment by assessing how the risk of an event differs between the two groups.
For example, in a clinical trial...
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Combination Therapies and Personalized Medicine02:50

Combination Therapies and Personalized Medicine

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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...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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相关实验视频

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Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems
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基于科学证据的罕见疾病知识图表.

Qian Zhu1, Ruizheng Liu2, Gunjan Vatas3

  • 1Division of Pre-Clinical Innovation, National Center for Advancing Translational Sciences, Rockville, USA.

Proceedings. IEEE International Conference on Bioinformatics and Biomedicine
|September 11, 2025
PubMed
概括

这项研究通过从PubMed文章中提取生物医学信息来解决罕见疾病数据稀缺问题. 这些数据以知识图形式呈现,以支持未来的罕见病研究.

关键词:
知识图表知识图表在新4jj.在PubMed上发现了这一点.罕见疾病 罕见疾病

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科学领域:

  • 生物医学信息学 生物医学信息学
  • 罕见疾病研究 罕见疾病研究
  • 数据科学数据科学数据科学

背景情况:

  • 由于临床前和临床研究数据有限,罕见疾病带来了重大挑战.
  • 利用现有的科学出版物对于全面的罕见病研究至关重要.
  • 从文献中有效提取和生成科学证据是必不可少的.

研究的目的:

  • 开发一种方法,利用积累的科学出版物在罕见疾病.
  • 从罕见病文献中提取和语义地呈现生物医学信息.
  • 建立一个知识图表,以支持罕见疾病研究.

主要方法:

  • 从PubMed.获得了与罕见疾病相关的文章.
  • 提取了各种类型的生物医学信息.
  • 使用Neo4j和预定义的数据模型开发了一个知识图.

主要成果:

  • 成功地从罕见疾病出版物中提取和整合生物医学信息.
  • 创建了一个含义丰富的知识图.
  • 建立了一个数据基础设施,以支持罕见疾病研究.

结论:

  • 开发的知识图有效地从罕见疾病文献中组织生物医学信息.
  • 这种方法提高了罕见病研究科学证据的可访问性和有用性.
  • 知识图表是促进罕见疾病研究的宝贵资源.