通过组织特异的多祖先分子数据促进人类基因组学中的公平.
Ana Luiza Arruda1, Andrew P Morris2, Eleftheria Zeggini3
1Institute of Translational Genomics, Helmholtz Munich, 85764 Neuherberg, Germany; Munich School for Data Science, Helmholtz Munich, 85764 Neuherberg, Germany; Technical University of Munich, School of Medicine, Graduate School of Experimental Medicine, 81675 Munich, Germany.
Cell genomics
|January 25, 2024
概括
从全球不同的人口和组织中生成分子数据至关重要. 这些数据将有助于解决遗传关联,识别关键基因,并将翻译基因组学扩展到欧洲祖先和基于血液的研究之外.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 人口遗传学 人口遗传学
背景情况:
- 目前的分子数据集缺乏组织类型和全球人口代表性的多样性.
- 这限制了全基因组关联研究 (GWAS) 的解析和疾病相关基因的识别.
- 翻译基因组学主要集中在欧洲祖先的个体和血液是主要组织的疾病上.
研究的目的:
- 突出从各种组织和全球人口中生成全面分子数据的迫切需要.
- 强调这些数据对于推进遗传研究和了解疾病的重要性.
- 倡导扩大翻译基因组学的范围.
主要方法:
- 这项研究是一个视角/综述,概述了数据生成的必要性.
- 它强调了对多组织和多祖先分子数据的关键需求.
- 专注于将这些数据应用于解决GWAS位点和识别效应基因.
主要成果:
- 目前,来自各种组织和全球人口的分子数据是不够的.
- 现有的数据主要代表欧洲祖先的个人和血液组织.
- 对于综合遗传和转化研究所需的数据存在重大差距.
结论:
- 产生多样化的分子数据对于准确的遗传发现至关重要.
- 扩大数据超越欧洲祖先和血液组织对于公平的基因组医学至关重要.
- 解决这些数据缺口将加速疾病机制和治疗目标的识别.
相关概念视频
Genomics
36.3K
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...
36.3K
Evolutionary Relationships through Genome Comparisons
5.7K
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...
5.7K
Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
Next-generation Sequencing
88.8K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
88.8K
Gene Evolution - Fast or Slow?
7.1K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
In contrast, regions which code...
7.1K
Multi-species Conserved Sequences
3.9K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
3.9K


