拉瓦尔 (RAVAR):为罕见的变异特征关联提供了一个精心策划的存储库
Chen Cao1, Mengting Shao1, Chunman Zuo2
1Key Laboratory for Bio-Electromagnetic Environment and Advanced Medical Theranostics, School of Biomedical Engineering and Informatics, Nanjing Medical University, Nanjing, China.
Nucleic acids research
|October 13, 2023
概括
RAVAR是一个新的存储库,收集罕见变异关联,对于理解复杂的特征至关重要. 该资源通过提供精选的基因和变异数据,提高了对遗传研究的可访问性.
科学领域:
- 遗传学 是一个遗传学.
- 生物信息学是一种生物信息学.
- 基因组医学是基因组医学.
背景情况:
- 罕见变异在全基因组关联研究中显著促进复杂的特征和缺失遗传性.
- 大规模数据集 (例如,英国生物库) 和基因水平测试方法的进步增加了检测到的罕见变异关联.
- 缺乏对这些关联的系统,精心策划的收集,特别是在基因层面,是缺乏的.
研究的目的:
- 创建一个全面的,精心策划的存储库的罕见变体协会.
- 解决对复杂特征的基因级和变异级关联的系统收集的需求.
- 提高罕见变异关联数据的可访问性和可用性.
主要方法:
- 来自245个出版物的罕见变异协会的手册策划.
- 包括95,047个高质量的关联 (76,186个基因水平,18861个变异水平) 对于4,429个特征.
- 开发一个具有搜索,可视化和下载功能的交互式Web界面.
主要成果:
- 建立了罕见变体协会存储库 (RAVAR),包含超过95,000个精心策划的罕见变体协会.
- 拉瓦提供了详细的基因和SNP信息,与4429个特征相关联.
- 该库提供了一个交互式平台,可以通过EFO树结构和曼哈顿地块来探索协会.
结论:
- RAVAR是第一个系统地收集和整理已发表的罕见变异关联的资源,以一种可访问的格式.
- 该存储库显著提高了研究人员对罕见变异关联研究的可访问性.
- 在网上可以免费使用RAVAR,这有助于进一步研究复杂特征的遗传基础.
相关概念视频
Genome-wide Association Studies-GWAS
13.5K
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...
13.5K
Single Nucleotide Polymorphisms-SNPs
15.2K
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,...
15.2K
Incomplete Dominance
22.7K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.7K
Multiple Allele Traits
34.3K
The Concept of Multiple Allelism
34.3K
Comparing Copy Number Variations and SNPs
17.7K
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%...
17.7K
Pleiotropy
40.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.6K


