DRED:与重复扩散疾病相关的基因的全面数据库
Qingqing Shi1, Min Dai1,2, Yingke Ma1
1Key Laboratory of Genetic Network Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Genomics, proteomics & bioinformatics
|September 30, 2024
概括
一个新的数据库,DRED,列出了与重复扩张疾病相关的基因. 它包括已知的与疾病相关的基因,并预测新的基因,帮助研究和诊断像亨廷顿病这样的疾病.
科学领域:
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
- 生物信息学是一种生物信息学.
背景情况:
- 基因中的并列重复扩张与严重的神经系统疾病有关.
- 关于重复扩张疾病基因的现有知识在科学文献中是分散的.
- 目前对涉及重复扩散疾病的新基因的系统预测是有限的.
研究的目的:
- 建立一个全面的,手工策划的基因与重复扩张疾病相关的基因数据库.
- 通过重复扩张来预测和包括可能引起疾病的基因.
- 为研究人员和专注于重复扩张障碍的临床医生提供集中资源.
主要方法:
- 来自PubMed和OMIM的已知重复扩张疾病基因的手动治疗.
- 基于重复组成,遗传变异,基因组特征和疾病关联的潜在致病基因的计算预测.
- 数据与NCBI和ClinVar等外部资源的整合.
主要成果:
- 与重复扩张疾病 (DRED) 相关的基因数据库包括与重复扩张疾病相关的所有61个已知的基因.
- 通过重复扩张,DRED确定了516个额外的基因,这些基因有可能通过重复扩张引起疾病.
- 该数据库提供详细的重复信息和链接到外部遗传变异和临床数据库.
结论:
- 对于研究重复扩散疾病而言,DRED是一个有价值的,用户友好的资源.
- 该数据库既有助于基础研究,也有助于对由重复扩张引起的遗传疾病进行临床诊断.
- DRED将定期更新,以纳入新发现的基因和相关信息.
相关概念视频
Genome-wide Association Studies-GWAS
13.2K
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...
13.2K
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Gene Duplication and Divergence
6.1K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
6.1K
Comparing Copy Number Variations and SNPs
17.6K
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%...
17.6K
Gene Families
8.8K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.8K
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


