South East Genomics

Technology

Webinar: Bioinformatics Basics: Variant Calling Using High-Throughput Sequencing Data

High-throughput (or, next-generation) sequencing data analysis requires a specialized biological and computational skillset. Scientists are required to work with large and complex files, program pipelines, use powerful computer hardware, and interpret results in a statistical context. While some analytical frameworks can be quite involved, several core steps are repeated among analyses. This webinar will describe …

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Webinar: Validation and Internal QC of Clinical NGS to Support an Accredited Diagnostic Workflow

Speaker: Dr. Kevin Balbi Head of Bioinformatics Sarah Cannon Molecular Diagnostics   In this webinar, Kevin Balbi, head of bioinformatics at Sarah Cannon Molecular Diagnostics, will discuss the validation of targeted sequencing panels on the Ion Torrent platform using Horizon Discovery’s Tru-Q controls. He will also discuss how those controls are being used for ongoing …

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Whole Genome Sequencing: Decoding the Language of Life and Health

The free online course is aimed at healthcare professionals who have limited or no understanding of the sequencing process and the many varied uses of whole genome sequencing. Science undergraduates and non-specialists who want to learn more about sequencing and genomic medicine are also very welcome.

Clinical Bioinformatics: Unlocking Genomics in Healthcare

This free online course is aimed at current healthcare professionals, who are interested in learning more about the role of clinical bioinformatics and will also be applicable to people with an interest in the application of genomics in healthcare.

Case Study: Genetic Testing Lab Sees 25-Fold Scaleup with New Informatics System

This webinar offers a look at how an advanced genetics laboratory implemented and validated a commercial bioinformatics system to help scale its operations. William Kearns, founder of genetics testing lab AdvaGenix, will share his team’s experience as it sought to increase its testing throughput while maintaining high quality standards. After studying the time and cost …

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Workshop: Developing a Professional Register for the Life Sciences Industry Workforce

NHS England has been working closely with industry to develop an independently accredited national register for life science industry representatives. NHS trusts in England are being invited to send a representative who will be leading on the implementation of this within their organisation to this workshop. The event will focus on how the proposed register …

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South East Genomics

Welcome to our new home

We have recently changed our name from the NHS London South Genomic Laboratory Hub to the NHS South East Genomic Laboratory Hub. We think it better reflects the region we cover!

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here. 
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.