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dc.contributor.authorMartin, Howard
dc.contributor.authorRichards, Allan J
dc.contributor.authorSnead, Martin P
dc.date.accessioned2022-07-13T23:30:05Z
dc.date.available2022-07-13T23:30:05Z
dc.date.issued2022-06-23
dc.identifier.issn2073-4425
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/339044
dc.description.abstractDiagnostic 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.
dc.publisherMDPI AG
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleFrom First to Second: How Stickler's Diagnostic Genetics Has Evolved to Match Sequencing Technologies.
dc.typeArticle
dc.publisher.departmentDepartment of Pathology
dc.publisher.departmentDepartment of Clinical Neurosciences
dc.date.updated2022-07-07T14:42:05Z
prism.endingPage1123
prism.issueIdentifier7
prism.publicationDate2022
prism.publicationNameGenes (Basel)
prism.startingPage1123
prism.volume13
dc.identifier.doi10.17863/CAM.86452
dcterms.dateAccepted2022-06-17
rioxxterms.versionofrecord10.3390/genes13071123
rioxxterms.versionVoR
dc.contributor.orcidSnead, Martin [0000-0003-0042-8659]
dc.identifier.eissn2073-4425
rioxxterms.typeJournal Article/Review
cam.issuedOnline2022-06-23
cam.depositDate2022-07-07
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International