Journal article
Advances in big data and omics: Paving the way for discovery in childhood epilepsies
Current problems in pediatric and adolescent health care, v 54(8), 101634
01 Aug 2024
PMID: 38825428
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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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Details
- Title
- Advances in big data and omics: Paving the way for discovery in childhood epilepsies
- Creators
- Jan Magielski - Children's Hospital of PhiladelphiaIan Mcsalley - Children's Hospital of PhiladelphiaShridhar Parthasarathy - Children's Hospital of PhiladelphiaJillian Mckee - Children's Hospital of PhiladelphiaShiva Ganesan - Children's Hospital of PhiladelphiaIngo Helbig - Children's Hospital of Philadelphia
- Publication Details
- Current problems in pediatric and adolescent health care, v 54(8), 101634
- Publisher
- Elsevier
- Number of pages
- 6
- Grant note
- He5415/7-1 / Genomics Research and Innovation Network (GRIN, grinnetwork.org)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- School of Biomedical Engineering and Science
- Web of Science ID
- WOS:001285557700001
- Scopus ID
- 2-s2.0-85194699632
- Other Identifier
- 991022202091804721
UN Sustainable Development Goals (SDGs)
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Source: SDGs in the Output
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Pediatrics