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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.5K
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

36.4K
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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Genetic Variation01:25

Genetic Variation

297
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
297
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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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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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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
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相关实验视频

Updated: Jul 12, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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AGIDB:用于跨物种的基因型归算和变异解码的多功能数据库.

Kaili Zhang1, Jiete Liang1, Yuhua Fu1

  • 1Key Laboratory of Agricultural Animal Genetics, Breeding, and Reproduction of the Ministry of Education & Key Laboratory of Swine Genetics and Breeding of the Ministry of Agriculture, Huazhong Agricultural University, Wuhan 430070, China.

Nucleic acids research
|October 27, 2023
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概括

AGIDB是一个新的网站,为动物基因组学研究提供工具和数据库. 它为89个物种提供了全面的变异解码和基因型赋值,支持遗传研究和育种.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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相关实验视频

Last Updated: Jul 12, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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科学领域:

  • 基因组学和遗传学 基因组学和遗传学
  • 生物信息学是一种生物信息学.
  • 动物科学动物科学

背景情况:

  • 全基因组测序的高成本限制了研究应用.
  • 从SNP芯片或低覆盖WGS (lcWGS) 的推算是常见的,但有局限性.
  • 处理 lcWGS 数据和满足归算要求是具有挑战性的.

研究的目的:

  • 开发AGIDB,一个全面的动物基因组学研究网站.
  • 克服处理 lcWGS 数据和基因型归算方面的局限性.
  • 提供一个用户友好的平台,提供广泛的变体数据和工具.

主要方法:

  • 整合的全基因组测序和芯片数据分别来自17,360个和174,945个个体.
  • 处理了89个物种的数据,识别了688.57个TB的超过10亿个变体.
  • 开发了用户友好的搜索,数据分析模块和可下载的参考面板.

主要成果:

  • 创建了AGIDB (agidb.pro),具有前所未有的样本大小和动物的变体解码.
  • 整合了各种各样的基因型归算场景.
  • 启用了针对特定人群的遗传变异的全面注释.

结论:

  • AGIDB是动物遗传学和育种研究的基础资源.
  • 该平台支持研究人员使用广泛的数据集,变体解码和实用工具.
  • AGIDB为众多物种进行先进的遗传变异分析和归算提供了便利.