Next generation sequencing methods for diagnosis of epilepsy syndromes
|
PDF
(732kB)
__qut.edu.au_Documents_StaffHome_staffgroupW$_wu75_Documents_ePrints_120125.pdf. Available under License Creative Commons Attribution 2.5. |
Open access copy at publisher website
Description
Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated for several decades, with several mutations in specific genes identified that have increased our understanding of the genetic influence on epilepsies. With 70-80% of epilepsy cases identified to have a genetic cause, there are now hundreds of genes identified to be associated with epilepsy syndromes which can be analyzed using next generation sequencing (NGS) techniques such as targeted gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS). For effective use of these methodologies, diagnostic laboratories and clinicians require information on the relevant workflows including analysis and sequencing depth to understand the specific clinical application and diagnostic capabilities of these gene sequencing techniques. As epilepsy is a complex disorder, the differences associated with each technique influence the ability to form a diagnosis along with an accurate detection of the genetic etiology of the disorder. In addition, for diagnostic testing, an important parameter is the cost-effectiveness and the specific diagnostic outcome of each technique. Here, we review these commonly used NGS techniques to determine their suitability for application to epilepsy genetic diagnostic testing.
Impact and interest:
Citation counts are sourced monthly from Scopus and Web of Science® citation databases.
These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.
Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.
Full-text downloads:
Full-text downloads displays the total number of times this work’s files (e.g., a PDF) have been downloaded from QUT ePrints as well as the number of downloads in the previous 365 days. The count includes downloads for all files if a work has more than one.
ID Code: | 120125 | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Item Type: | Contribution to Journal (Journal Article) | ||||||||||||
Refereed: | Yes | ||||||||||||
ORCID iD: |
|
||||||||||||
Measurements or Duration: | 11 pages | ||||||||||||
Keywords: | Next generation sequencing, bioinformatics, diagnostics, epilepsy, gene panels, neurology, whole exome sequencing, whole genome sequencing | ||||||||||||
DOI: | 10.3389/fgene.2018.00020 | ||||||||||||
ISSN: | 1664-8021 | ||||||||||||
Pure ID: | 33363596 | ||||||||||||
Divisions: | Past > QUT Faculties & Divisions > Faculty of Health Past > Institutes > Institute of Health and Biomedical Innovation |
||||||||||||
Copyright Owner: | Consult author(s) regarding copyright matters | ||||||||||||
Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au | ||||||||||||
Deposited On: | 24 Jul 2018 03:37 | ||||||||||||
Last Modified: | 25 Jul 2024 11:41 |
Export: EndNote | Dublin Core | BibTeX
Repository Staff Only: item control page