Research Associate in Clinical Computational Genomics
Imperial College London
United Kingdom

Job summary

A bioinformatics research associate post with specialisation in clinical genomics is available to develop a project aimed at discovering causal mutations in whole genome sequences from patients with rare disorders. Work will be carried out within the Section of Genetics and Genomics, in the Department of Metabolism, Reproduction and Digestion of Imperial College London, and in close collaboration with the North West Thames Regional Genetics...

Job listing information

  • Reference MED02327
  • Date posted 3 March 2021
  • Closing date 31 March 2021

Key information about the role

  • Location Hammersmith Campus (map)
  • Position type Full time, fixed term
  • Salary £40,858 – £48,340 plus benefits
  • Department Department of Metabolism, Digestion and Reproduction
  • Category Researcher / Non Clinical Researcher

Job description

Job summary

A bioinformatics research associate post with specialisation in clinical genomics is available to develop a project aimed at discovering causal mutations in whole genome sequences from patients with rare disorders. Work will be carried out within the Section of Genetics and Genomics, in the Department of Metabolism, Reproduction and Digestion of Imperial College London, and in close collaboration with the North West Thames Regional Genetics Service, from the London North West University Healthcare (LNWH) NHS trust. 

The clinical interpretation of whole genome sequences is one of the major challenges in modern medicine. The NHS has recently sequenced 100,000 patient genomes, while genome and exome sequencing is rapidly becoming a routine technology in clinical and biomedical research settings. A majority of patients who undergo clinical sequencing, however, do not obtain an unequivocal genetic diagnosis, largely due to our limitations in deciphering genome variants.

The LNWH Genetics Service routinely evaluates patients with rare diseases through whole exome and genome sequencing. As a part of its genetic diagnostic service, it has recruited cohorts of rare disease patients to Genomics England Ltd (100,000 Genomes project). After routine genetic diagnostics, many patients remain genetically undiagnosed. At the same time, researchers in the ICL Section of Genetics and Genomics have specialised in the computational and functional dissection of genome sequence variants (see for example Pasquali et al, Nat Genet 2014, Atanur et al, Cell 2013, Weedon et al Nat Genet 2014, Miguel-Escalada et al, Nat Genet 2019). Much of this research leverages the Section’s expertise in regulatory genomics to discover rare and common disease-causing variants that disrupt noncoding portions of the genome.

Duties and responsibilities

You will capitalize on these two environments to interrogate genome sequence data from patients with undiagnosed rare diseases. You will ask new research questions to discover genes that harbour pathogenic mutations and identify causal mutations in coding and non-coding genomic regions. In doing so, you will develop variant discovery and interpretation pipelines. This will be accomplished through integration of patient data with whole genome variant data (including Genomics England 100,000 genomes) and publicly available regulatory genomic datasets, using machine learning and other analytical strategies. Collaborative arrangements within the section are possible for functional validations.

The post is in a dynamic and stimulating environment within Imperial College London’s major biomedical campus, which hosts numerous teams with expertise in regulatory genomics, human genetics and genomics, and epigenetics. The project will be developed together with Dr. Santosh Atanur (Genome Data Scientist), Dr. Toby Andrew (Lecturer, Statistical Genetics), Dr. Ines Cebola (Advanced Research Fellow, Functional Genomics), and Prof. Jorge Ferrer (Section Head).

Furthermore, you will interact regularly with a clinical genetics team at LNWH NHS trust. You will also benefit from an excellent infrastructure to carry out this project, including the BRC Genomics Facility and access to our high-throughput computing platform. The College also prides itself of providing excellent training opportunities for postdoctoral trainees with an array of workshops and short courses specifically designed for both personal and professional development at this career stage.

Essential requirements

    • Research Associate: Hold a PhD (or equivalent) in Computational Biology, Bioinformatics, Computational Genomics, and Statistical Genetics or a closely related discipline
    • Research Assistant: Near completion of a PhD (or equivalent) in Computational Biology, Bioinformatics, Computational Genomics, and Statistical Genetics or a closely related discipline
    • Analysis of next-generation sequencing data specifically whole genome and exome data
    • Using bioinformatics tools and techniques to process NGS data
    • Familiarity with data standards to process and analyse next-generation sequencing data
    • Handling large scale genomic datasets

Further information

This is a full time, fixed term role for 2 years based at the Hammersmith Campus, London.

Candidates who have not yet been officially awarded their PhD will be appointed as a Research Assistant within the salary range £36,045 - £39,183 per annum.

Should you have any queries regarding the role, informal inquiries can be directed to Dr Santosh Atanur at santosh.atanur@imperial.ac.uk


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