RT Journal Article
SR Electronic
T1 Whole-genome sequencing
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 322
OP 327
DO 10.1136/practneurol-2020-002561
VO 21
IS 4
A1 Huw R Morris
A1 Henry Houlden
A1 James Polke
YR 2021
UL http://pn.bmj.com/content/21/4/322.abstract
AB 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.