大数据和全息技术的进步:为发现儿童癫痫铺平道路。

IF 3 4区 医学 Q1 PEDIATRICS
{"title":"大数据和全息技术的进步:为发现儿童癫痫铺平道路。","authors":"","doi":"10.1016/j.cppeds.2024.101634","DOIUrl":null,"url":null,"abstract":"<div><p>The insights gained from big data and omics approaches have transformed the field of childhood genetic<span> epilepsy. With an increasing number of individuals receiving genetic testing for seizures, we are provided with an opportunity to identify clinically relevant subgroups and extract meaningful observations from this large-scale clinical data. However, the volume of data from electronic medical records and omics (e.g., genomics, transcriptomics) is so vast that standardized methods, such as the Human Phenotype Ontology, are necessary for reliable and comprehensive characterization. Here, we explore the integration of clinical and omics data, highlighting how these approaches pave the way for discovery in childhood epilepsies.</span></p></div>","PeriodicalId":49086,"journal":{"name":"Current Problems in Pediatric and Adolescent Health Care","volume":"54 8","pages":"Article 101634"},"PeriodicalIF":3.0000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Advances in big data and omics: Paving the way for discovery in childhood epilepsies\",\"authors\":\"\",\"doi\":\"10.1016/j.cppeds.2024.101634\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The insights gained from big data and omics approaches have transformed the field of childhood genetic<span> epilepsy. With an increasing number of individuals receiving genetic testing for seizures, we are provided with an opportunity to identify clinically relevant subgroups and extract meaningful observations from this large-scale clinical data. However, the volume of data from electronic medical records and omics (e.g., genomics, transcriptomics) is so vast that standardized methods, such as the Human Phenotype Ontology, are necessary for reliable and comprehensive characterization. Here, we explore the integration of clinical and omics data, highlighting how these approaches pave the way for discovery in childhood epilepsies.</span></p></div>\",\"PeriodicalId\":49086,\"journal\":{\"name\":\"Current Problems in Pediatric and Adolescent Health Care\",\"volume\":\"54 8\",\"pages\":\"Article 101634\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2024-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Problems in Pediatric and Adolescent Health Care\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1538544224000853\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Problems in Pediatric and Adolescent Health Care","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1538544224000853","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

摘要

从大数据和全息方法中获得的洞察力改变了儿童遗传性癫痫领域。随着越来越多的人接受癫痫发作基因检测,我们有机会识别与临床相关的亚组,并从这些大规模临床数据中提取有意义的观察结果。然而,来自电子病历和omics(如基因组学、转录组学)的数据量是如此庞大,以至于标准化方法(如人类表型本体)对于可靠和全面的特征描述是必不可少的。在此,我们将探讨临床数据与全息数据的整合,重点介绍这些方法如何为儿童癫痫的发现铺平道路。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advances in big data and omics: Paving the way for discovery in childhood epilepsies

The insights gained from big data and omics approaches have transformed the field of childhood genetic epilepsy. With an increasing number of individuals receiving genetic testing for seizures, we are provided with an opportunity to identify clinically relevant subgroups and extract meaningful observations from this large-scale clinical data. However, the volume of data from electronic medical records and omics (e.g., genomics, transcriptomics) is so vast that standardized methods, such as the Human Phenotype Ontology, are necessary for reliable and comprehensive characterization. Here, we explore the integration of clinical and omics data, highlighting how these approaches pave the way for discovery in childhood epilepsies.

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
CiteScore
4.60
自引率
0.00%
发文量
61
审稿时长
5 days
期刊介绍: Recognized for its probing, comprehensive, and evidence-based reviews, Current Problems in Pediatric and Adolescent Health Care devotes each issue to a timely and practical topic in pediatric medicine, presented by leading authorities in the field. The journal offers readers easily accessible information that enhances professional experience and is pertinent to daily pediatric practice. Each issue''s review article is accompanied by an additional special feature designed to highlight a particular aspect of the topic presented.
×
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