Bioinformatician/Computer Scientist in Genomics

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Part time
Location: London
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About the Role The WHRI has a strong and growing group working in translational genomics within the Centre of Clinical Pharmacology and Precision Medicine. This post is part of a collaboration between the WHRI, Professor Henry Houlden and Professor Andrea Malaspina at UCL Institute of Neurology. The post will involve taking responsibility for the research and supervising the research team; project managing the research activity and will involve identifying sources of research funding and contributing to the process of securing funds through bids and growing reputation. About You The post holder will provide overall analysis of large-scale short-read whole genome sequencing datasets and long-read sequencing data to understand the penetrance, expressivity and biomarkers associated with the most common genetic cause of motor neuron disease and frontotemporal dementia, a repeat expansion in the C9orf72 gene. Two key areas include: (1) genotyping the C9orf72 repeat expansion and associated demographic, clinical, imaging and biomarkers data in the UK Biobank; (2) analysis of DNA and RNA long-read sequencing data from individuals with the C9orf72 repeat expansion. This post requires

extensive

experience in the analysis of genomic data, supported by a PhD. The candidate will support the development and applications of novel algorithms to analyze short tandem repeats from short- and long-read sequencing data. Knowledge of current analytic approaches for obtaining insight into the aetiology of Mendelian and complex phenotypes through the analysis of large-scale genomic databases is essential. An interest in molecular neuroscience and neurology genetics is desirable. The post requires a flexible, intuitive, highly talented individual capable of self-organization, with a broad range of skills in data analysis, genomic bioinformatics, software engineering, database management, and a passion for using new genetic tools to advance clinical medicine. About the School/Department/Institute/Project The WHRI has a strong and growing group working in translational genomics within the Centre of Clinical Pharmacology. This post is part of a collaboration between Arianna Tucci, MRC Clinician Scientist, Professor Mark Caulfield CEO of Barts Life Sciences, and Professor Henry Houlden, Professor in Clinical Neurology at UCL. The collaboration will combine the University’s large-scale genomic data with world-class expertise in neurology genetics, genomics, clinical and basic neuroscience, and clinical development capabilities. About Queen Mary At Queen Mary University of London, we believe that a diversity of ideas helps us achieve the previously unthinkable. Throughout our history, we've fostered social justice and improved lives through academic excellence. And we continue to live and breathe this spirit today, not because it's simply 'the right thing to do' but for what it helps us achieve and the intellectual brilliance it delivers. We continue to embrace diversity of thought and opinion in everything we do, in the belief that when views collide, disciplines interact, and perspectives intersect, truly original thought takes form. Benefits We offer competitive salaries, access to a generous pension scheme, 30 days' leave per annum (pro-rata for part-time/fixed-term), a season ticket loan scheme and access to a comprehensive range of personal and professional development opportunities. In addition, we offer a range of work-life balance and family-friendly, inclusive employment policies, flexible working arrangements, and campus facilities including an on-site nursery at the Mile End campus. The post is based at the Charterhouse Square Campus in London and UCL Institute of Neurology. It is a fixed-term appointment for 18 months in the first instance.

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