Advances in big data and omics: Paving the way for discovery in childhood epilepsies.

Big data Epilepsy Genetics Genomics Human phenotype ontology Omics

Journal

Current problems in pediatric and adolescent health care
ISSN: 1538-3199
Titre abrégé: Curr Probl Pediatr Adolesc Health Care
Pays: United States
ID NLM: 101134613

Informations de publication

Date de publication:
01 Jun 2024
Historique:
medline: 3 6 2024
pubmed: 3 6 2024
entrez: 2 6 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.cppeds.2024.101634 PMID: 38825428
pubmed: 38825428
pii: S1538-5442(24)00085-3
doi: 10.1016/j.cppeds.2024.101634
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

101634

Informations de copyright

Copyright © 2024. Published by Elsevier Inc.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare no conflict of interest.

Auteurs

Jan Magielski (J)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.

Ian McSalley (I)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA.

Shridhar Parthasarathy (S)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

Jillian McKee (J)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA.

Shiva Ganesan (S)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA; School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, PA, 19014, USA.

Ingo Helbig (I)

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19146, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA. Electronic address: helbigi@chop.edu.

Classifications MeSH