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相关概念视频

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
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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.
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Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Such genes that act...
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搜索PCMdb:关于与疾病相关的蛋白质编码突变的知识

Peng Yang1,2,3, Ziyang Wang1,2,4, Tuo Xiong1,2,4

  • 1China National Center for Bioinformation, Beijing  100101, China.

Nucleic acids research
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概括
此摘要是机器生成的。

SeekPCMdb是一个新的数据库,从科学文献中对人类疾病相关的蛋白质编码突变 (PCM) 进行了分类. 它提供了一种独特的,可访问的资源,用于研究基因型-表型相关性和突变影响.

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科学领域:

  • 基因组学就是基因组学.
  • 生物信息学是一种生物信息学.
  • 医学遗传学 医学遗传学

背景情况:

  • 蛋白编码突变 (PCM) 在人类疾病的发展和进展中至关重要.
  • 下一代测序已经增加了与疾病相关的PCM报告,但它们在文献中是分散的.
  • 对这些突变的系统研究受到它们分散的可访问性所阻碍.

研究的目的:

  • 引入SeekPCMdb,这是一个从文献中获得的知识库,用于系统地编目与人类疾病相关的PCM.
  • 为研究基因型-表型相关性研究的研究人员提供一个集中和可访问的资源.
  • 促进对突变致病性的评估和跨疾病突变模式的识别.

主要方法:

  • 一种半自动化工作流程,结合了手动策划和大语言模型 (LLM) 辅助的信息提取.
  • 从超过12,000个PubMed摘要中提取基因突变与疾病的关系.
  • 开发一个用户友好的网页界面,具有交互式搜索,可视化和多维过.

主要成果:

  • 目前,SeekPCMdb 包含 11,395 条精选条目,包括 3,516 个基因, 4,505 种疾病和 23 种突变类型.
  • 在SeekPCMdb中63.7%的PCM不在ClinVar中,突出了其新的贡献.
  • 条目有丰富的注释,支持详细的生物学解释.

结论:

  • SeekPCMdb将非结构化的文献和结构化的突变知识相结合,提供了一个有价值的资源.
  • 该数据库增强了与疾病相关的PCM的系统调查.
  • 它支持对基因型-表型相关性,突变致病性和跨疾病突变模式的研究.