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相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.4K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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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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RNA-seq03:21

RNA-seq

9.8K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.6K
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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lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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DNA Microarrays02:34

DNA Microarrays

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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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相关实验视频

Updated: Jun 9, 2025

Spatial Profiling of Protein and RNA Expression in Tissue: An Approach to Fine-Tune Virtual Microdissection
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stSNV: 是空间转录组中SNV的综合资源.

Changbo Yang1, Yujie Liu2, Xiaohua Wang3

  • 1College of Bioinformatics Science and Technology, Harbin Medical University, No.157 Baojian Road, Harbin, Heilongjiang 150081, China.

Nucleic acids research
|October 29, 2024
PubMed
概括

这项研究介绍了stSNV,一个空间突变资源,详细介绍了人类和小鼠组织中的单核酸变体 (SNV). 它有助于理解遗传异质性和SNV在疾病中的作用.

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Low-input Nucleus Isolation and Multiplexing with Barcoded Antibodies of Mouse Sympathetic Ganglia for Single-nucleus RNA Sequencing
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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.
  • 空间生物学 空间生物学

背景情况:

  • 单核酸变体 (SNVs) 是遗传变异的关键,影响基因表达,功能和表型.
  • 了解SNV在生病和正常组织中的空间分布对于了解细胞系,衰老和疾病至关重要.
  • 描述SNV的角色需要全面的空间突变数据和分析工具.

研究的目的:

  • 为人类和小鼠组织开发和展示stSNV,一个全面的空间突变资源.
  • 提供空间SNV的地图,包括它们的分布和特征.
  • 促进SNVs对基因表达,细胞通信和生物功能的影响的探索.

主要方法:

  • 在450个组织切片中编制了898,908个SNV的数据集,来自450个组织切片中的730,067个斑点的42,202个突变基因.
  • 分析了SNV扰乱对基因表达,空间通信和生物功能的影响.
  • 将数据集成到一个用户友好的界面中,具有可视化工具和分析功能,用于探索SNV细胞共定位.

主要成果:

  • stSNV在19个患病的和28个正常的人类和小鼠组织中记录了空间SNV.
  • 分析揭示了SNV特征的洞察力,包括特定区域的突变基因,空间突变特征和突变核心区域.
  • 该资源可以在组织片内探索细胞类型,基因和SNV之间的共同定位.

结论:

  • stSNV是剖析组织内遗传异质性的宝贵资源.
  • 该平台支持理解在空间背景下SNVs的生物调节机制.
  • 这项工作为未来关于空间基因组学和疾病机制的研究奠定了基础.