利用深度学习进行基因组学中基于snp的疾病预测。

Colten Alme, Harun Pirim, M Mishkatur Rahman
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引用次数: 0

摘要

本研究探讨了使用深度学习模型从单核苷酸多态性(SNP)数据预测疾病状态。8个GEO数据集使用一致的管道进行处理,包括基因型编码、数据清洗和多特征选择策略。各种DL架构——包括前馈网络、自动编码器、cnn和rnn——被训练和评估。这项工作的新颖之处在于标准化的预处理、特征选择和应用于所有数据集的模型训练管道,允许对模型性能进行直接和公平的比较。结果一致表明,前馈网络和自动编码器在大多数数据集上表现最好。这项工作为在基因组学中应用深度学习提供了一种实用的方法,并具有未来扩展的潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Harnessing deep learning for SNP-based disease prediction in genomics.

This study investigates the use of deep learning models to predict disease status from single nucleotide polymorphism (SNP) data. Eight GEO datasets were processed using a consistent pipeline involving genotype encoding, data cleaning, and multiple feature selection strategies. A variety of DL architectures-including feedforward networks, autoencoders, CNNs, and RNNs-were trained and evaluated. The novelty of this work lies in the standardized preprocessing, feature selection, and model training pipeline applied across all datasets, allowing for a direct and fair comparison of model performance. Results consistently showed that feedforward networks and autoencoders performed best across most datasets. This work offers a practical approach to applying deep learning in genomics with potential for future extensions.

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