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Machine Learning Algorithm for Noise Reduction and Disease-Causing Gene Feature Extraction in Gene Sequencing Data

Machine Learning 2025-05-27 v1

Abstract

In this study, we propose a machine learning-based method for noise reduction and disease-causing gene feature extraction in gene sequencing DeepSeqDenoise algorithm combines CNN and RNN to effectively remove the sequencing noise, and improves the signal-to-noise ratio by 9.4 dB. We screened 17 key features by feature engineering, and constructed an integrated learning model to predict disease-causing genes with 94.3% accuracy. We successfully identified 57 new candidate disease-causing genes in a cardiovascular disease cohort validation, and detected 3 missed variants in clinical applications. The method significantly outperforms existing tools and provides strong support for accurate diagnosis of genetic diseases.

Keywords

Cite

@article{arxiv.2505.19740,
  title  = {Machine Learning Algorithm for Noise Reduction and Disease-Causing Gene Feature Extraction in Gene Sequencing Data},
  author = {Weichen Si and Yihao Ou and Zhen Tian},
  journal= {arXiv preprint arXiv:2505.19740},
  year   = {2025}
}
R2 v1 2026-07-01T02:38:56.179Z