From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies

Diagnostic genetics within the United Kingdom National Health Service (NHS) has undergone many stepwise improvements in technology since the completion of the human genome project in 2003. Although Sanger sequencing has remained a cornerstone of the diagnostic sequencing arena, the human genome refe...

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Bibliographic Details
Published in:Genes 2022-06, Vol.13 (7), p.1123
Main Authors: Martin, Howard, Richards, Allan J., Snead, Martin P.
Format: Article
Language:English
Subjects:
Automation
Binding sites
Diagnosis
Diagnostic tests
DNA sequencing
Gene amplification
Genetic screening
Genetics
Genomes
Human Genome Project
Laboratories
Methods
Next-generation sequencing
Nucleotide sequence
Nucleotide sequencing
Review
Software
Stickler syndrome
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Summary:Diagnostic genetics within the United Kingdom National Health Service (NHS) has undergone many stepwise improvements in technology since the completion of the human genome project in 2003. Although Sanger sequencing has remained a cornerstone of the diagnostic sequencing arena, the human genome reference sequence has enabled next-generation sequencing (more accurately named ‘second-generation sequencing’), to rapidly surpass it in scale and potential. This mini review discusses such developments from the viewpoint of the Stickler’s higher specialist service, detailing the considerations and improvements to diagnostic sequencing implemented since 2003.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes13071123