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Updated: Nov 6, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
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.
Abstract:
The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential difficulties in annotating new genetic variants for individual patients and families. Here we outline the steps in organising whole-genome sequencing for patients in the neurology clinic and emphasise that close liaison between the clinician and the laboratory is essential.
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