{"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":null,"pages":null},"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\":null,\"pages\":null},\"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}
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.
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.