如何解释全基因组关联研究的解释
Thomas A Pearson1, Teri A Manolio
1Office of Population Genomics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-2154, USA.
JAMA
|March 20, 2008
概括
全基因组关联研究使用单核酸多态 (SNP) 识别疾病的遗传变异. 虽然GWA研究对发现有价值,但有局限性,目前是发现工具,而不是直接临床使用.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 人类遗传学 人类遗传学
背景情况:
- 全基因组关联 (GWA) 研究是识别与常见疾病和特征相关的遗传变异的关键工具.
- 高通量基因型鉴定测试了数十万个单核酸多态 (SNP) 来发现遗传关联.
研究的目的:
- 描述GWA研究的设计,解释,应用和局限性.
- 为临床医生和科学家提供对这个不断发展的领域的理解.
主要方法:
- 使用高通量基因型定型技术来分析众多单核酸多态 (SNP).
- 通过统计分析,将已识别的SNP与临床条件和可测量的特征联系起来.
主要成果:
- 自2005年以来,已确定并复制了多达40种常见疾病和特征的近100个位点.
- 这些发现包括新的基因和基因组区域,其中一些以前与疾病无关.
结论:
- GWA研究是了解基因组功能和疾病机制的强大发现工具.
- 局限性包括虚假阳性/阴性和偏差的可能性;直接的临床应用仍在开发中.
更多相关视频
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
20.2K
08:27Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
4.6K
相关概念视频
02:02Genomics
35.6K
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...
35.6K
02:54Evolutionary Relationships through Genome Comparisons
5.9K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.9K
03:36Genome Annotation and Assembly
16.8K
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.
16.8K
01:11Genome-wide Association Studies-GWAS
12.9K
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...
12.9K
01:29Pharmacogenomics: Identification of New Drug Targets
129
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
129