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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Comparing Copy Number Variations and SNPs02:26

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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%...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Human Genetics01:28

Human Genetics

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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...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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可解释变异自编码器 (E-VAE) 模型使用全基因组SNP来预测痴呆症.

Sithara Vivek1, Jessica Faul2, Bharat Thyagarajan1

  • 1Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, United States.

Journal of biomedical informatics
|November 5, 2023
PubMed
概括
此摘要是机器生成的。

使用遗传数据的深度学习模型可以预测与阿尔茨海默病相关的痴呆症 (ADRD). 这种利用可解释变异自编码器 (E-VAE) 的方法,对理解ADRD生物学和改善疾病分类有希望.

关键词:
深度学习是一种深度学习.痴呆症是一种痴呆症.在GWAS的SNP中,GWAS的SNP是:可以概括的一般化.预测模型的预测模型.

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科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.
  • 人工智能的人工智能

背景情况:

  • 阿尔茨海默病 (AD) 和相关的痴呆症 (ADRD) 是复杂的神经退行性疾病.
  • 全基因组关联研究 (GWAS) 提供了与ADRD相关的大量遗传变异数据.
  • 深度学习为分析大型GWAS数据集以发现生物机制提供了一种强大的方法.

研究的目的:

  • 开发和验证一个深度学习模型来使用遗传数据对ADRD进行分类.
  • 探索深度学习在阐明ADRD生物机制方面的潜力.
  • 在独立的队列中评估开发模型的通用性.

主要方法:

  • 开发了一个可解释的变异自编码器 (E-VAE) 分类器,使用GWAS SNP数据从健康和退休研究 (HRS) 的2714名参与者.
  • 验证了E-VAE模型的通用性,使用宗教秩序研究和记忆和衰老项目 (ROSMAP) 的234名参与者的数据.
  • 采用线性解码方法来提取用于生物解释潜伏特征的重量.

主要成果:

  • 在HRS测试数据集中,E-VAE模型实现了0.71 (AUC 0.69) 的预测准确度.
  • 该模型在独立的ROSMAP数据集中以0.62的精度 (AUC0.63) 证明了可概括性.
  • 通过E-VAE识别潜在的潜伏特征,以进行潜在的生物解释.

结论:

  • 这项研究首次证明了使用独立队列中的遗传变异的痴呆症深度学习预测模型的概括性.
  • 从E-VAE中发现的潜在特征可以有助于理解AD/ADRD生物学.
  • E-VAE方法显示了改善痴呆症疾病状况特征的潜力.