通过基因网络的镜头进行遗传研究
Marc Subirana-Granés1, Jill Hoffman1, Haoyu Zhang1
11Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA;
Annual review of biomedical data science
|February 20, 2025
概括
本研究审查了整合基因组学和分子数据的方法,以了解复杂的特征. 机器学习识别基因网络,改善疾病洞察力和治疗目标发现.
科学领域:
- 基因组学就是基因组学.
- 系统生物学 系统生物学
- 计算生物学 计算生物学
背景情况:
- 全基因组关联研究 (GWAS) 确定与复杂特征相关的遗传变异.
- 大多数GWAS变体都存在于非编码区域,从而掩盖了功能链接.
- 全转录组关联研究 (TWAS) 将变异与基因表达联系起来,但往往错过了基因相互作用.
研究的目的:
- 审查综合方法来理解复杂的特征.
- 突出机器学习在识别基因模块和网络中的作用.
- 强调特定环境的疾病机制和治疗目标的发现.
主要方法:
- 整合各种分子数据 (例如基因表达,药物反应).
- 利用机器学习来识别共同表达和功能基因模块.
- 使用像PhenoPLIER这样的方法,将TWAS与转录资料结合起来.
主要成果:
- 识别具有生物意义的基因网络.
- 对疾病过程的特定背景理解.
- 在网络中突出显示核心和外围基因.
结论:
- 综合基因组学方法提高了遗传研究的解释性.
- 这些方法有助于发现新的治疗点.
- 进步有助于个性化医疗领域.
相关概念视频
Protein Networks
3.9K
An organism can have thousands of different proteins, and these proteins must cooperate to ensure the health of an organism. Proteins bind to other proteins and form complexes to carry out their functions. Many proteins interact with multiple other proteins creating a complex network of protein interactions.
These interactions can be represented through maps depicting protein-protein interaction networks, represented as nodes and edges. Nodes are circles that are representative of a protein,...
These interactions can be represented through maps depicting protein-protein interaction networks, represented as nodes and edges. Nodes are circles that are representative of a protein,...
3.9K
Genome-wide Association Studies-GWAS
12.3K
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...
12.3K
Behavioral Genetics and Its Designs
317
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
317
Genomics
35.7K
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...
35.7K
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
Human Genetics
520
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
520


