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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:
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