主题建模在英国生物银行中确定了与多病症相关的新型遗传位置
Yidong Zhang1,2,3, Xilin Jiang1,4,5,6,7,8, Alexander J Mentzer1,5
1Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.
Cell genomics
|August 21, 2023
概括
我们开发了treeLFA以从健康数据中识别疾病的同时发生 (多重疾病). 对这些多病症模式的基因分析揭示了超越单一疾病研究的复杂特征的洞察力.
科学领域:
- 计算生物学是一种计算生物学.
- 遗传学 遗传学 是一个
- 流行病学 流行病学
背景情况:
- 多病性,即多种疾病的同时发生,是常见的,并与系统性失调有关.
- 了解这些模式对于理解复杂的特征病因至关重要.
研究的目的:
- 开发和验证一种新的方法 (treeLFA) 来从常规健康数据中识别多病症集群.
- 通过全基因组关联研究 (GWAS) 调查多病态模式的遗传基础.
主要方法:
- 开发了树LFA,将主题建模与医学本体学先验相结合.
- 将LFA树应用于英国生物库数据,以确定多病症主题.
- 使用主题权重作为特征进行GWAS,并将结果与单一疾病的GWAS进行比较.
主要成果:
- 确定了不同的多病症集群,包括一个"健康"的主题.
- 与多种疾病模式相关的遗传位点与单一疾病位点部分重叠.
- treeLFA在现有方法 (如潜在的迪里克莱特分配) 上显示出了改进.
结论:
- 主题模型有效地表征复杂的多病态模式.
- 对多病症的遗传分析为复杂特征的病因提供了新的见解.
- 这种方法提高了我们的理解,超出了单一疾病的遗传研究.
相关概念视频
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
Single Nucleotide Polymorphisms-SNPs
15.3K
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,...
15.3K
Polygenic Traits
66.0K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
66.0K
Genomics
36.5K
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...
36.5K
Multiple Allele Traits
34.3K
The Concept of Multiple Allelism
34.3K
Human Genetics
611
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...
611


