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Bioinformatician

5 months ago

London, United Kingdom University College London Hospitals NHS Foundation Trust Full time

The post holder will work closely with the bioinformatics team at GOSH and within the North Thames GLH to maintain and develop in house pipelines for both nuclear and mitochondrial DNA NGS analysis as well as bespoke programs designed to facilitate analysis of whole genome sequence data.

The post holder will provide expert bioinformatics leadership, knowledge and support for the provision and development of next generation sequencing (NGS) data analysis.

The Neurogenetics Laboratory of the UCLH National Hospital for Neurology and Neurosurgery (NHNN) is located alongside the Regional Genetics Laboratory at Great Ormond Street Hospital, forming the lead Rare Disease Laboratory in the North Thames Genomics Laboratory Hub (GLH). The Laboratory provides a regional, national and international diagnostic service for inherited neurological disease, including the Highly Specialised Services for Mitochondrial Disease, Rare Neuromuscular Disorders (skeletal muscle channelopathies) and Leukodystrophies..

The laboratory is ISO 15189:2012 accredited and has close associations with clinicians and research groups at the UCL Queen Square Institute of Neurology.

The role includes management of data storage and archiving. With the introduction of whole genome sequencing into the NHS diagnostic setting this is an evolving and challenging role suited to a flexible hardworking bioinformatician.

Previous experience in a diagnostic genetics laboratory or in NGS data analysis pipeline development and maintenance is essential; no previous experience in neurology is necessary.

For detailed information about this role, please refer to the attached Job Description (Supporting Documents).