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Updated: Nov 6, 2025
10:34
Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
23.3K
Whole-genome sequencing.
Huw R Morris1, Henry Houlden2, James Polke3
1Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK h.morris@ucl.ac.uk.
Practical Neurology
|May 11, 2021
Summary
Whole-genome sequencing offers rapid genetic disease diagnoses but presents annotation challenges. Close collaboration between clinicians and laboratories is crucial for effective implementation in neurology clinics.
Area of Science:
- Genomics
- Clinical Genetics
- Neurology
Background:
- Decreasing costs of whole-genome sequencing (WGS) are driving its adoption in clinical research and routine care.
- WGS facilitates faster diagnoses for patients with rare genetic disorders.
- Genomic diversity and variant annotation complexities introduce diagnostic uncertainties.
Purpose of the Study:
- To outline the organizational steps for implementing WGS in neurology clinics.
- To highlight the importance of clinician-laboratory communication in WGS workflows.
Main Methods:
- Descriptive outline of WGS implementation steps for neurological patients.
- Emphasis on interdisciplinary communication protocols.
Main Results:
- Identification of key organizational steps for WGS in clinical neurology.
- Reinforcement of the necessity for strong clinician-laboratory liaison.
Conclusions:
- Effective integration of WGS into neurology requires careful planning and robust communication.
- Addressing variant annotation challenges is essential for maximizing diagnostic yield and patient benefit.
Keywords:
neurogenetics
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