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

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2022 Jul 27

PMID 35885907

Authors

Howard Martin

Allan J Richards

Martin P Snead

Affiliations

Soon will be listed here.

Abstract

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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