人类基因组草案指南
T G Wolfsberg1, J McEntyre, G D Schuler
1Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Nature
|March 10, 2001
概括
研究人类基因组涉及多种方法,包括DNA测序. 现代信息技术,特别是互联网,对于整合各种基因组数据来推进生物医学研究至关重要.
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.
- 人类遗传学 人类遗传学
背景情况:
- 人类基因组可以通过各种方法进行研究,例如染色体形态学,遗传映射和基因表征.
- 人类基因组DNA序列的阐明提供了一个新的信息层.
研究的目的:
- 提供各种人类基因组信息来源的概述.
- 突出信息技术在整合基因组数据中的作用.
主要方法:
- 审查人类基因组调查的既定方法.
- 描述人类DNA序列的重要性.
- 讨论互联网技术用于数据链接的应用.
主要成果:
- 人类基因组研究存在多个数据源.
- 人类基因组序列是对现有数据的宝贵补充.
- 互联网使得不同基因组数据集的整合成为可能.
结论:
- 整合各种人类基因组数据对于未来的生物医学研究至关重要.
- 信息技术,特别是互联网,是创建统一基因组信息基础设施的关键.
更多相关视频
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
10.2K
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
8.9K
相关概念视频
Genomic DNA in Eukaryotes
45.9K
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
45.9K
What is Genetic Engineering?
70.6K
Overview
70.6K
Animal Mitochondrial Genetics
7.8K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.8K
Genome Annotation and Assembly
16.7K
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.
16.7K
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...
GWAS does not require the identification of the target gene involved in...
12.6K
Human Genetics
2.0K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
2.0K
