基于逐步深度学习的SNP组合对精神分裂症病因学影响的解释,使用多精度数据
Yousang Jo1, Maree J Webster2, Sanghyeon Kim2
1Department of Bio and Brain Engineering, KAIST, Daejeon, South Korea.
Briefings in functional genomics
|September 22, 2023
概括
本研究引入了一种深度学习方法 (SLEM),通过分析分子相互作用,揭示单核酸多态 (SNP) 的组合如何影响精神分裂症风险. 研究结果显示,SNP组合比单个SNP更准确地进行预测.
科学领域:
- 遗传学 是一个遗传学.
- 计算生物学 计算生物学
- 精神疾病 精神疾病
背景情况:
- 全基因组关联研究 (GWAS) 已经确定了许多精神分裂症的遗传风险位置.
- 多个单核酸多态 (SNP) 之间的复杂相互作用及其对精神分裂症易感性的贡献仍然不太清楚.
研究的目的:
- 开发和验证一种新的深度学习方法,即步骤深度学习与多精度数据 (SLEM),用于识别与精神分裂症相关的SNP组合.
- 阐明SNP组合对精神分裂症风险的影响中介的中间分子和细胞功能.
主要方法:
- SLEM技术采用双层数据精度方法,将高精度,有限的多层测试数据与大规模,低精度的GWAS数据集成在一起.
- 最初的分子相互作用网络是使用精确的数据构建的,然后从广泛的GWAS数据中学习相互作用的优势,以确定重要的SNP组合.
- 该方法在一个独立的数据集上进行验证,以确保结果的可靠性.
主要成果:
- SLEM有效地识别了SNP的组合,这些组合对精神分裂症易感性有显著的贡献.
- 与单个SNP相比,已识别的SNP组合显示出更高的预测准确性.
- 提取的SNP组合在独立的验证数据集上保持其预测能力.
结论:
- 拟议的SLEM方法为剖析诸如精神分裂症之类疾病的复杂遗传结构提供了一个强大的框架.
- 鉴定到的SNP组合及其相关的分子途径为精神分裂症病因提供了新的见解.
- 这种方法有助于从大规模的基因组和分子数据集中发现复杂的遗传相互作用.
相关概念视频
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
Biological Causes of Schizophrenia
71
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
71
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
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
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
721
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
721
Psychological and Sociocultural Causes of Schizophrenia
102
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
102


