Identification of Smith–Magenis syndrome cases through an experimental evaluation of machine learning methods

IF 2.1 4区 医学 Q2 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Raúl Fernández-Ruiz, Esther Núñez-Vidal, Irene Hidalgo-delaguía, Elena Garayzábal-Heinze, Agustín Álvarez-Marquina, Rafael Martínez-Olalla, Daniel Palacios-Alonso
{"title":"Identification of Smith–Magenis syndrome cases through an experimental evaluation of machine learning methods","authors":"Raúl Fernández-Ruiz, Esther Núñez-Vidal, Irene Hidalgo-delaguía, Elena Garayzábal-Heinze, Agustín Álvarez-Marquina, Rafael Martínez-Olalla, Daniel Palacios-Alonso","doi":"10.3389/fncom.2024.1357607","DOIUrl":null,"url":null,"abstract":"This research work introduces a novel, nonintrusive method for the automatic identification of Smith–Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data “windowing” technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith–Magenis syndrome.","PeriodicalId":12363,"journal":{"name":"Frontiers in Computational Neuroscience","volume":"137 1","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Computational Neuroscience","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fncom.2024.1357607","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MATHEMATICAL & COMPUTATIONAL BIOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

This research work introduces a novel, nonintrusive method for the automatic identification of Smith–Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data “windowing” technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith–Magenis syndrome.
通过对机器学习方法的实验评估识别史密斯-马盖尼综合征病例
这项研究工作介绍了一种新颖的非侵入式方法,用于自动识别传统上通过遗传标记研究的史密斯-马盖尼综合征。该方法利用了倒频谱峰突出和各种机器学习技术,并依赖于研究小组计算的单一指标。在两个案例研究中对这些技术的性能进行了评估,每个案例研究都采用了独特的数据预处理方法。此外,还开发了一种专有的数据 "窗口 "技术,以获得更具代表性的数据集。为解决数据集中的类不平衡问题,采用了合成少数群体超采样技术(SMOTE)进行数据扩增。这些预处理技术的应用从有限的初始数据集中获得了可喜的结果。研究得出的结论是,k-近邻和线性判别分析的效果最好,而倒频谱峰突出度是识别史密斯-马盖尼综合征的一种有前途的测量方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Frontiers in Computational Neuroscience
Frontiers in Computational Neuroscience MATHEMATICAL & COMPUTATIONAL BIOLOGY-NEUROSCIENCES
CiteScore
5.30
自引率
3.10%
发文量
166
审稿时长
6-12 weeks
期刊介绍: Frontiers in Computational Neuroscience is a first-tier electronic journal devoted to promoting theoretical modeling of brain function and fostering interdisciplinary interactions between theoretical and experimental neuroscience. Progress in understanding the amazing capabilities of the brain is still limited, and we believe that it will only come with deep theoretical thinking and mutually stimulating cooperation between different disciplines and approaches. We therefore invite original contributions on a wide range of topics that present the fruits of such cooperation, or provide stimuli for future alliances. We aim to provide an interactive forum for cutting-edge theoretical studies of the nervous system, and for promulgating the best theoretical research to the broader neuroscience community. Models of all styles and at all levels are welcome, from biophysically motivated realistic simulations of neurons and synapses to high-level abstract models of inference and decision making. While the journal is primarily focused on theoretically based and driven research, we welcome experimental studies that validate and test theoretical conclusions. Also: comp neuro
×
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:481959085
Book学术官方微信