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相关概念视频

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.8K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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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...
3.9K
Synteny and Evolution02:31

Synteny and Evolution

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John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.2K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

9.8K
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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Mouse Models of Cancer Study02:43

Mouse Models of Cancer Study

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Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
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Updated: Jun 7, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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GENCODE 2025:人类和老鼠的参考基因注释

Jonathan M Mudge1, Sílvia Carbonell-Sala2, Mark Diekhans3

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

Nucleic acids research
|November 20, 2024
PubMed
概括
此摘要是机器生成的。

GENCODE项目通过先进的测序和蛋白质组学来增强人类和小鼠基因组注释. 新方法改进了转录模型和长的非编码RNA目录,使基因组数据更容易获得.

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科学领域:

  • 基因组学就是基因组学.
  • 文字转录学 (Transcriptomics) 是一个学科.
  • 蛋白质组学是指蛋白质组学.

背景情况:

  • GENCODE项目为人类和小鼠基因组提供了全面的基因注释.
  • 基因组学领域正在迅速推进新技术和新方法.
  • 准确的基因注释对于理解基因组功能和疾病至关重要.

研究的目的:

  • 详细介绍 GENCODE 对人类和老鼠的综合基因注释的最新进展.
  • 突出新技术的整合,以改善基因组和转录基因组编目.
  • 为了应对资源可用性的挑战,并概述未来的方向在 pangenome 时代.

主要方法:

  • 长读转录组测序用于识别新型转录和改进现有的基因模型.
  • 整合蛋白质组学和Ribo-seq数据,以增强翻译序列的注释.
  • 开发过的基因组 (例如,MANE Select,GENCODE Primary) 以提高可用性.

主要成果:

  • 长长的非编码RNA目录的显著扩展和重新配置.
  • 对现有的转录模型进行了实质性的改进,并识别了许多缺失的转录.
  • 通过集成的多omics数据来增强翻译序列的注释.

结论:

  • GENCODE 继续发展,利用尖端技术实现越来越细粒度的基因组注释.
  • 新的资源和过的基因组提高了可用性,解决了全面的基因组数据的复杂性.
  • 该项目准备通过在多个基因组中传播注释,为新兴的泛基因组时代做出贡献.