使用微阵列技术对人类基因组进行实验性注释
D D Shoemaker1, E E Schadt, C D Armour
1Rosetta Inpharmatics, Inc., Kirkland, Washington 98034, USA.
Nature
|March 10, 2001
概括
实验验证对于准确的基因组注释至关重要. 新的基于数组的方法改进了基因预测,并在各种条件下识别了mRNA拼接变体.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 基因组测序产生了基因目录,但仅计算注释是不够的.
- 实验验证对于完整而准确的基因和产品库存至关重要.
研究的目的:
- 开发和应用实验方法来验证和完善计算基因预测.
- 为了定义全长的转录和识别mRNA拼接变体.
- 为了确定特定于组织和疾病的基因表达模式.
主要方法:
- 使用了通过喷墨寡核酸合成制造的外子和层阵列.
- 应用对外子的共同调节表达来定义全长的转录.
- 在69个条件下对人类染色体22q进行了测试,在两个条件下对整个人类基因组进行了测试.
主要成果:
- 展示了一种用于对基因预测进行实验性基因组规模验证的方法.
- 启用检测mRNA拼接变体和组织/疾病特定的基因表达.
- 提供了更准确的基因计数和转录定义.
结论:
- 实验验证显著提高了基因组注释的准确性和可靠性.
- 开发的方法改进了互补的DNA克隆策略.
- 这种方法在研究复杂疾病方面具有潜在的应用.
相关概念视频
02:34DNA Microarrays
20.6K
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...
20.6K
03:36Genome Annotation and Assembly
20.5K
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.
20.5K
02:02Genomics
39.5K
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...
39.5K