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相关概念视频

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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Genetic Screens02:46

Genetic Screens

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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...
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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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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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Reporter Genes02:11

Reporter Genes

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Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
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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...
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相关实验视频

Updated: Jun 24, 2025

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
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Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

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监管基因组特征的公共数据来源

Samuele Garda1, Jana Marie Schwarz2,3, Markus Schuelke2,3

  • 1Knowledge Management in Bioinformatics, Institute for Computer Science, Humboldt-Universität zu Berlin, Unter den Linden 6, 10099 Berlin, Germany.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
|June 5, 2024
PubMed
概括

本综述强调了非编码基因组和文献挖掘技术的关键数据来源. 它有助于解释监管基因组区域内的遗传变异.

关键词:
数据库就是数据库.功能性DNA元素的功能性DNA元素.提取信息 提取信息没有编码的基因组.文本采矿 文本采矿是什么

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Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases
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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.
  • 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.

背景情况:

  • 高通量技术产生了大量的基因组监管信息.
  • 国际联盟的数据可以在在线数据库中找到.
  • 疾病特异性研究提供了对基因调节的洞察力,但通常是在文献中.

研究的目的:

  • 对非编码基因组的突出数据来源进行审查.
  • 讨论基于文献的信息检索的挑战和方法.
  • 帮助解释调节基因组中的变异.

主要方法:

  • 对知名数据源的文献综述.
  • 描述搜索和获取科学文献的技术.
  • 分析数据的可访问性和对变体解释的有用性.

主要成果:

  • 确定监管基因组信息的关键在线数据库.
  • 讨论访问和利用已公布数据的常见陷.
  • 介绍有效的文献挖掘策略.

结论:

  • 整合来自不同来源的数据对于理解基因组调节至关重要.
  • 有效的文献搜索策略增强了对遗传变异的解释.
  • 本综述为研究人员使用非编码基因组数据提供了一份指南.