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
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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.

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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.
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