整合人工智能和基因组学:预测精神分裂症表型的CNN模型。

IF 1.8 Q3 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Guilherme Henriques, Maryam Abbasi, Daniel Martins, Joel P Arrais
{"title":"整合人工智能和基因组学:预测精神分裂症表型的CNN模型。","authors":"Guilherme Henriques, Maryam Abbasi, Daniel Martins, Joel P Arrais","doi":"10.1515/jib-2024-0057","DOIUrl":null,"url":null,"abstract":"<p><p>This study explores the use of deep learning to analyze genetic data and predict phenotypic traits associated with schizophrenia, a complex psychiatric disorder with a strong hereditary component yet incomplete genetic characterization. We applied Convolutional Neural Networks models to a large-scale case-control exome sequencing dataset from the Swedish population to identify genetic patterns linked to schizophrenia. To enhance model performance and reduce overfitting, we employed advanced optimization techniques, including dropout layers, learning rate scheduling, batch normalization, and early stopping. Following systematic refinements in data preprocessing, model architecture, and hyperparameter tuning, the final model achieved an accuracy of 80 %. These results demonstrate the potential of deep learning approaches to uncover intricate genotype-phenotype relationships and support their future integration into precision medicine and genetic diagnostics for psychiatric disorders such as schizophrenia.</p>","PeriodicalId":53625,"journal":{"name":"Journal of Integrative Bioinformatics","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Integrating AI and genomics: predictive CNN models for schizophrenia phenotypes.\",\"authors\":\"Guilherme Henriques, Maryam Abbasi, Daniel Martins, Joel P Arrais\",\"doi\":\"10.1515/jib-2024-0057\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This study explores the use of deep learning to analyze genetic data and predict phenotypic traits associated with schizophrenia, a complex psychiatric disorder with a strong hereditary component yet incomplete genetic characterization. We applied Convolutional Neural Networks models to a large-scale case-control exome sequencing dataset from the Swedish population to identify genetic patterns linked to schizophrenia. To enhance model performance and reduce overfitting, we employed advanced optimization techniques, including dropout layers, learning rate scheduling, batch normalization, and early stopping. Following systematic refinements in data preprocessing, model architecture, and hyperparameter tuning, the final model achieved an accuracy of 80 %. These results demonstrate the potential of deep learning approaches to uncover intricate genotype-phenotype relationships and support their future integration into precision medicine and genetic diagnostics for psychiatric disorders such as schizophrenia.</p>\",\"PeriodicalId\":53625,\"journal\":{\"name\":\"Journal of Integrative Bioinformatics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-06-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Integrative Bioinformatics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1515/jib-2024-0057\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MATHEMATICAL & COMPUTATIONAL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Integrative Bioinformatics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1515/jib-2024-0057","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MATHEMATICAL & COMPUTATIONAL BIOLOGY","Score":null,"Total":0}
引用次数: 0

摘要

本研究探索了使用深度学习来分析遗传数据并预测与精神分裂症相关的表型特征,精神分裂症是一种复杂的精神疾病,具有强烈的遗传成分,但遗传特征不完整。我们将卷积神经网络模型应用于来自瑞典人群的大规模病例对照外显子组测序数据集,以确定与精神分裂症相关的遗传模式。为了提高模型性能并减少过拟合,我们采用了先进的优化技术,包括辍学层、学习率调度、批处理归一化和早期停止。经过数据预处理、模型架构和超参数调优的系统改进,最终模型的精度达到了80% %。这些结果证明了深度学习方法在揭示复杂的基因型-表型关系方面的潜力,并支持它们未来整合到精神分裂症等精神疾病的精准医学和基因诊断中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Integrating AI and genomics: predictive CNN models for schizophrenia phenotypes.

This study explores the use of deep learning to analyze genetic data and predict phenotypic traits associated with schizophrenia, a complex psychiatric disorder with a strong hereditary component yet incomplete genetic characterization. We applied Convolutional Neural Networks models to a large-scale case-control exome sequencing dataset from the Swedish population to identify genetic patterns linked to schizophrenia. To enhance model performance and reduce overfitting, we employed advanced optimization techniques, including dropout layers, learning rate scheduling, batch normalization, and early stopping. Following systematic refinements in data preprocessing, model architecture, and hyperparameter tuning, the final model achieved an accuracy of 80 %. These results demonstrate the potential of deep learning approaches to uncover intricate genotype-phenotype relationships and support their future integration into precision medicine and genetic diagnostics for psychiatric disorders such as schizophrenia.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of Integrative Bioinformatics
Journal of Integrative Bioinformatics Medicine-Medicine (all)
CiteScore
3.10
自引率
5.30%
发文量
27
审稿时长
12 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信