基因组语言模型用于预测增强剂及其在人类基因组中的等位基因特异性活动
bioRxiv : the preprint server for biology
|April 1, 2025
概括
DNABERT-Enhancer使用基因组语言模型准确预测称为增强剂的调节元素,改进了以前的方法. 该工具有助于理解基因调节,并识别与疾病相关的遗传变异.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 计算生物学 计算生物学
背景情况:
- 由于复杂的序列特征,预测像增强剂这样的基因调节元素是复杂的.
- 现有的机器学习方法往往忽视了序列上下文,导致了低于最佳的增强器预测.
- 基因组语言模型为分析DNA序列提供了一个有希望的方法.
研究的目的:
- 开发一种新且准确的增强器预测方法,使用预训练的基因组语言模型.
- 改进对cis调节元素的识别,以便更好地解释基因组.
- 预测具有异位基因特异性调节活性的候选遗传变异.
主要方法:
- 将DNABERT预训练语言模型应用于人类基因组序列.
- 使用来自ENCODE注册表的增强器训练和微调两个模型.
- 在独立数据集上使用准确度和马修斯相关系数评估模型性能.
主要成果:
- 最好的DNABERT-Enhancer模型在独立数据上实现了88.05%的准确性和76%的MCC.
- 进行全基因组增强剂注释和与现有数据库进行比较.
- 确定了具有异位基因特异性增强剂和转录因子结合活性的单核酸候选多态 (SNP).
结论:
- DNABERT-Enhancer提供了一种强大而准确的方法来预测增强剂.
- 该工具为功能性和临床基因组学提供了有价值的全基因组增强器注释.
- 预测的遗传变异可以帮助解释基因组变异的功能影响.
更多相关视频
11:36Author Spotlight: An Integrated Workflow to Study the Promoter-Centric Spatio-Temporal Genome Architecture in Scarce Cell Populations
Published on: April 21, 2023
1.9K
09:07Prediction and Validation of Gene Regulatory Elements Activated During Retinoic Acid Induced Embryonic Stem Cell Differentiation
Published on: June 21, 2016
8.1K
相关概念视频
Genomic DNA in Eukaryotes
46.6K
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
46.6K
Chromatin Position Affects Gene Expression
23.2K
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area.
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
23.2K
Cell Specific Gene Expression
13.3K
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
13.3K
Genome-wide Association Studies-GWAS
12.2K
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...
12.2K
Organization of Genes
68.2K
Overview
68.2K
Epigenetic Regulation
3.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.0K
