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Dominant Stickler Syndrome
 
 
Review

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

Stickler’s Higher Specialist Service, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 0PY, UK
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Academic Editor: Piero Fariselli
Genes 2022, 13(7), 1123; https://doi.org/10.3390/genes13071123
Received: 25 May 2022 / Revised: 16 June 2022 / Accepted: 17 June 2022 / Published: 23 June 2022
(This article belongs to the Special Issue Genetics in Stickler Syndrome)
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. View Full-Text
Keywords: next-generation sequencing; diagnostic genetics; NHS next-generation sequencing; diagnostic genetics; NHS
MDPI and ACS Style

Martin, H.; Richards, A.J.; Snead, M.P. From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies. Genes 2022, 13, 1123. https://doi.org/10.3390/genes13071123

AMA Style

Martin H, Richards AJ, Snead MP. From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies. Genes. 2022; 13(7):1123. https://doi.org/10.3390/genes13071123

Chicago/Turabian Style

Martin, Howard, Allan J. Richards, and Martin P. Snead. 2022. "From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies" Genes 13, no. 7: 1123. https://doi.org/10.3390/genes13071123

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