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Integrating Genetic structural variations and whole genome sequencing into clinical neurology


Lin, Xin and Yuanhao, Y and Melton, PE and Singh, V and Simpson-Yap, S and Burdon, KP and Taylor, BV and Zhou, Y, Integrating Genetic structural variations and whole genome sequencing into clinical neurology, Neurology: Genetics, 8, (4) Article e200005. ISSN 2376-7839 (2022) [Refereed Article]

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Copyright Statement

Copyright 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CC BY-NC-ND).

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DOI: doi:10.1212/NXG.0000000000200005


Advances in genome sequencing technologies have unlocked new possibilities in identifying disease-associated and causative genetic markers, which may in turn enhance disease diagnosis and improve prognostication and management strategies. With the capability of examining genetic variations ranging from single-nucleotide mutations to large structural variants, whole-genome sequencing (WGS) is an increasingly adopted approach to dissect the complex genetic architecture of neurologic diseases. There is emerging evidence for different structural variants and their roles in major neurologic and neurodevelopmental diseases. This review first describes different structural variants and their implicated roles in major neurologic and neurodevelopmental diseases, and then discusses the clinical relevance of WGS applications in neurology. Notably, WGS-based detection of structural variants has shown promising potential in enhancing diagnostic power of genetic tests in clinical settings. Ongoing WGS-based research in structural variations and quantifying mutational constraints can also yield clinical benefits by improving variant interpretation and disease diagnosis, while supporting biomarker discovery and therapeutic development. As a result, wider integration of WGS technologies into health care will likely increase diagnostic yields in difficult-to-diagnose conditions and define potential therapeutic targets or intervention points for genome-editing strategies.

Item Details

Item Type:Refereed Article
Keywords:Neurogenetics, Whole-genome-sequencing, Neurology,
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Neurogenetics
Objective Division:Health
Objective Group:Evaluation of health and support services
Objective Field:Determinants of health
UTAS Author:Lin, Xin (Mr Xin Lin)
UTAS Author:Melton, PE (Dr Phillip Melton)
UTAS Author:Singh, V (Dr Vikrant Singh)
UTAS Author:Simpson-Yap, S (Dr Steve Simpson JR)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Taylor, BV (Professor Bruce Taylor)
UTAS Author:Zhou, Y (Mr Yuan Zhou)
ID Code:153565
Year Published:2022
Deposited By:Menzies Institute for Medical Research
Deposited On:2022-09-26
Last Modified:2022-11-01
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