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The University of Southampton
Genomic Informatics

Translation

The Genomic Informatics group is involved in taking NGS into the clinic locally.

NextSeq 500
NextSeq 500

With programmes such as the 100,000 Genomes Project and the local Wessex Clinical Exome Pilot (WCEP), NGS based tests are increasingly available to local patients.

The WCEP is an allied initiative between the University of Southampton, University Hospital Southampton NHS FT and Salisbury NHS FT, facilitated by the Wessex Academic Health Sciences Network. This project works to develop the local infrastructure, such as the NextSeq 500 now located in the WISH lab, and expertise to deliver clinical-grade NGS diagnostics to local patients. This will lead directly to patient benefit, thanks to improved turn-arount-times and greater equity of access for genetic testing, as well as benefitting the NHS thanks to reduced cost.

Our group is working to develop analysis pipelines and procedures to allow this translation to take place, while strengthening the ongoing links between genetic diagnostics and research.

Some key publications from the group relating to the translation of NGS are listed below.

Articles

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