arXiv:2508.09212q-bio.GNcs.AI2025-08

用深度生成模型模拟真实基因型数据,兼顾隐私与可访问性。

Deep Generative Models for Discrete Genotype Simulation

  • 针对离散基因型特点改进VAE、扩散模型和GAN
  • 在牛全染色体和人多条染色体上验证有效捕捉遗传模式
  • 保留基因型-表型关联,适合遗传学与隐私保护研究

深度生成模型为模拟真实基因组数据提供了新路径,同时解决隐私保护与数据可及性问题。以往研究多聚焦于基因表达或单倍型数据生成,而本研究探索在无条件与表型条件下的基因型数据生成,因基因型的离散特性更具挑战性。我们开发并评估了变分自编码器(VAEs)、扩散模型与生成对抗网络(GANs)等常用生成模型,并提出适配离散基因型数据的改进方案。在包含牛全染色体及人类多条染色体的大规模数据集上进行了广泛实验。模型性能通过来自深度学习与数量遗传学领域的标准指标综合评估。结果表明,这些模型能有效捕捉遗传结构并保留基因型-表型关联。研究提供全面对比与实用指导,推动未来基因型模拟研究发展。代码已开源:https://github.com/SihanXXX/DiscreteGenoGen。

原文摘要 · Abstract (English)

Deep generative models open new avenues for simulating realistic genomic data while preserving privacy and addressing data accessibility constraints. While previous studies have primarily focused on generating gene expression or haplotype data, this study explores generating genotype data in both unconditioned and phenotype-conditioned settings, which is inherently more challenging due to the discrete nature of genotype data. In this work, we developed and evaluated commonly used generative models, including Variational Autoencoders (VAEs), Diffusion Models, and Generative Adversarial Networks (GANs), and proposed adaptation tailored to discrete genotype data. We conducted extensive experiments on large-scale datasets, including all chromosomes from cow and multiple chromosomes from human. Model performance was assessed using a well-established set of metrics drawn from both deep learning and quantitative genetics literature. Our results show that these models can effectively capture genetic patterns and preserve genotype-phenotype association. Our findings provide a comprehensive comparison of these models and offer practical guidelines for future research in genotype simulation. We have made our code publicly available at https://github.com/SihanXXX/DiscreteGenoGen.

基因型模拟生成模型深度学习遗传学

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