我如何在一篇论文中报告基因?
Carolin Gabbert1, Christine Klein1, Joanne Trinh1
1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Movement disorders clinical practice
|March 12, 2024
概括
基因检测正在迅速发展,识别的基因和变异数量正在增加. 本教程指导研究人员如何报告基因信息并使用可用的数据库和工具处理新型基因发现.
科学领域:
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
- 基因组医学是基因组医学.
背景情况:
- 下一代测序技术已经显著提升了基因测试能力.
- 鉴定出基因和遗传变异的数量越来越多,需要标准化的报告实践.
- 现有的数据库和工具提供了有价值的信息,但缺乏关于基因报告的全面指南.
研究的目的:
- 为研究人员提供关于在科学出版物中报告基因的教程.
- 概述报告基因时所需的基本信息,包括命名,位置,变异,别名和表型.
- 引入可用的数据库和工具,以获取必要的基因信息.
主要方法:
- 对现有的遗传数据库和生物信息学工具的文献综述.
- 综合有关基因命名和变异分类标准的信息.
- 开发一种结构化的方法来报告遗传发现.
主要成果:
- 确定目前报告遗传信息的指导方针中的差距.
- 编制基因报告所必需的关键信息类别.
- 关于基因数据检索相关在线资源的概述.
结论:
- 对遗传信息的标准化报告对于科学可重复性和清晰性至关重要.
- 研究人员可以利用现有的数据库和工具,有效地报告基因发现.
- 本教程作为导航基因信息报告的入门资源.
相关概念视频
02:11Reporter Genes
11.3K
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.
11.3K
01:43Incomplete Dominance
22.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.6K
02:02Cis-regulatory Sequences
9.9K
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...
9.9K
02:55Synthetic Biology
4.7K
Synthetic biology is an interdisciplinary science that involves using principles from disciplines such as engineering, molecular biology, cell biology, and systems biology. It involves remodeling existing organisms from nature or constructing completely new synthetic organisms for applications such as protein or enzyme production, bioremediation, value-added macromolecule production, and the addition of desirable traits to crops, to name a few.
Golden rice
Golden rice is a genetically modified...
Golden rice
Golden rice is a genetically modified...
4.7K
02:32Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
01:58Cell Specific Gene Expression
13.6K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.6K