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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Detalles Bibliográficos
Autores principales: Martin, Howard, Richards, Allan J., Snead, Martin P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319459/
https://www.ncbi.nlm.nih.gov/pubmed/35885907
http://dx.doi.org/10.3390/genes13071123
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author Martin, Howard
Richards, Allan J.
Snead, Martin P.
author_facet Martin, Howard
Richards, Allan J.
Snead, Martin P.
author_sort Martin, Howard
collection PubMed
description 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.
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spelling pubmed-93194592022-07-27 From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies Martin, Howard Richards, Allan J. Snead, Martin P. Genes (Basel) Review 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. MDPI 2022-06-23 /pmc/articles/PMC9319459/ /pubmed/35885907 http://dx.doi.org/10.3390/genes13071123 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Martin, Howard
Richards, Allan J.
Snead, Martin P.
From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies
title From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies
title_full From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies
title_fullStr From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies
title_full_unstemmed From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies
title_short From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies
title_sort from first to second: how stickler’s diagnostic genetics has evolved to match sequencing technologies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319459/
https://www.ncbi.nlm.nih.gov/pubmed/35885907
http://dx.doi.org/10.3390/genes13071123
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