相关实验视频
Updated: May 5, 2026

13:33
Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
41.3K
一个第二代人类单双型地图,包含超过310万个SNP
1, Kelly A Frazer, Dennis G Ballinger
1The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.
Nature
|October 19, 2007
概括
第二阶段HapMap详细介绍了多种不同种群中的超过310万个人类单核酸多态 (SNP),提高了全基因组关联研究的归算准确性,并揭示了对遗传变异和链接不平衡的见解.
科学领域:
- 人类遗传学 人类遗传学
- 人口遗传学 人口遗传学
- 基因组学就是基因组学.
背景情况:
- 国际HapMap项目旨在描述人类遗传变异的全球模式.
- 了解单核酸多态 (SNP) 分布对于遗传关联研究至关重要.
研究的目的:
- 描述第二阶段HapMap,这是人类遗传变异的全面资源.
- 评估HapMap对归算和全基因组关联研究 (GWAS) 的有用性.
- 为了研究链接不平衡 (LD) 的结构和自然选择的模式.
主要方法:
- 来自四个不同种群的270个个体中的超过310万个SNP的基因定型.
- 分析SNP数据以描述常见变异和LD.
- 使用商业基因型识别平台对归算准确性的评估.
- 检查重组率和人口差异化的研究.
主要成果:
- 第二阶段的HapMap捕获了25-35%的常见SNP变化,归算r2值高达0.96.
- 商用基因型定型产品在不同种群中显示出不同的捕获效率 (在非洲人群中高达0.8,非非洲人群中高达0.95).
- 由于最近的祖先,在种群中存在显著的LD,并且由于重组热点,一些常见的变体无法标记.
- 重组率与基因位置和功能有关,非同义SNP显示分化增加,表明选择.
结论:
- 第二阶段的HapMap显著提高了GWAS的归算准确性.
- 该地图为LD结构,重组模式以及自然选择对人类遗传变异的影响提供了新的见解.
- 这种资源对于推进遗传研究和理解人类多样性至关重要.
相关概念视频
Karyotyping
49.3K
Overview
49.3K
Synteny and Evolution
2.9K
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...
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
2.9K
Comparing Copy Number Variations and SNPs
11.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.6K
Single Nucleotide Polymorphisms-SNPs
14.6K
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,...
14.6K
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

