An exciting opportunity has arisen for a Research Fellow to join the Human Genetics & Genomic Medicine Group at the University of Southampton based at Southampton University Hospital Trust. The role sits at the interface of contemporary genomic sequencing research, functional genomics and clinical translation. The post holder will help drive the interpretation and utility of novel research findings into clinical practice. The successful candidate will join a research team involved in identifying and prioritising novel disease gene variants identified local and national patients cohorts. This project aims to establish a pipeline for functional validation of variants of unknown significance to improve clinical translation of contemporary genomic studies.
The post holder will be required to directly analyse clinical genomic data as well as network with local researchers undertaking similar medical genomic analyses. They will be responsible for collating key data for the sensitive assessment and prioritisation of potentially disease-causing variants of unknown significance identified from patient pedigrees and cohorts.
The role requires expertise in processing and assessment of human genomic data with strong experience in the annotation of genomic variants with respect to data quality and in silico prediction tools. The role will require excellent communication skills and interaction with a diverse team, ranging from patient-facing clinical colleagues to scientific researchers working in animal models.
The successful candidate should have a PhD or equivalent professional qualifications and experience in bioinformatics, medical genomics, computer science, genomic informatics or equivalent.
This full-time position is offered for a fixed term until 30/06/2024 in the first instance. The post will be aligned to the Faculty of Medicine, School of Human Development and Health based at Southampton University Trust (Southampton General Hospital) and Highfield campus.
For further information please contact Sarah Ennis, Professor of Genomics. S.Ennis@soouthampton.ac.uk
‘Applications for Research Fellow positions will be considered from candidates who are working towards or nearing completion of a relevant PhD qualification. The title of Research Fellow will be applied upon successful completion of the PhD. Prior to the qualification being awarded the title of Senior Research Assistant will be given.’.
We aim to be an equal opportunities employer and welcome applications from all sections of the community.