Research Associate or Research Fellow

King's College London

Job id: 069158. Salary: Research Associate £41,386-£48,414 / Research Fellow £49,737-£58,421 per annum, including London Weighting Allowance.

Posted: 16 June 2023. Closing date: 09 July 2023.

Business unit: Faculty of Life Sciences & Medicine. Department: Medical & Molecular Genetics.

Contact details:Tim Hubbard. [email protected]

Location: Guy’s Campus. Category: Research.

Job description

We are seeking a highly motivated postdoctoral researcher to undertake computational genetics research as part of the Genomics England Clinical Interpretation Partnership (www.genomicsengland.co.uk/research/academic ). 

The 100,000 genomes project has been the forerunner of the use of whole genome sequencing for individual care of rare disease and cancer patients, now established as part of the NHS Genome Medicine Service. Unfortunately, limitations to our ability to interpret genomes mean that currently less than 50% of rare disease patients receive a genomic diagnosis. However, the ability to analysis these whole genomes alongside de-identified clinical data in a secure environment allows both individual and systematic investigations improve this diagnostic rate.

This role represents a unique opportunity to work in the Genomics England research environment to help facilitate algorithm innovation to aid interpretation from across the research community. One way to assess the effectiveness of new algorithms is through blind test evaluation. This approach has been famously used in the biannual CASP competitions from 1994 to drive innovation and improvement. It was recognised as an important factor in the breakthrough AlphaFold AI solution to the protein folding problem, by Deepmind in 2020. 

There is a parallel competition CAGI (Critical Assessment of Genome Interpretation – genomeinterpretation.org) which has recently published a summary of the first 10 years of challenges (arxiv.org/abs/2205.05897). Developing blind test truth datasets for CAGI is hard, particularly given the need to protect patient privacy. A key part of this role is to construct novel rare disease CAGI challenges from the Genomics England datasets to evaluate and stimulate algorithm innovation, making use of Genomics England’s Trusted Research Environment (TRE). The role is also an opportunity to generate scientific insights from this unique data set, including into biological processes and target discovery. This could for example include investigating the application of structural knowledge from the complete database of AlphaFold structure of human proteins to the problem of identification of causal variants in rare disease cases.

The applicant should be familiar with contemporary human genetic studies, including genome interpretation for rare diseases, with expertise in bioinformatics, statistical genetics and genetic epidemiology. They are expected to be able to work effectively as part of a team but also to direct research independently as required. This post represents an exceptional opportunity for career development within a highly supportive environment for both early- and mid-career researchers.

The post will be located in the Department of Medical and Molecular Genetics at King’s College London at the Guy’s Campus in London Bridge. 

This post will be offered on an a fixed-term contract till 20/02/2026 

This is a full-time post – 35 hours per week

Key responsibilities

  • Undertake original and state of the art human genetics research as a member of the Genomics England Clinical Interpretation Partnership (GeCIP) 
  • Identify areas for research, develop new research methods and extend the research portfolio of the team 
  • Identify scientific and technical challenges and implement new technological approaches to solve problems 
  • Contribute to collaborative decision making with colleagues 
  • Manage research progress and contribute to setting objectives for the achievement of project aims 
  • Maintain comprehensive analysis notes and prepare reports on results for verbal and multimedia presentations at regular lab meetings, consortium meetings and national and international conferences. 
  • Prepare manuscripts for publication in peer review journals.  
  • Assist, supervise and train other members of the group, including students and other research staff in their application in related lab projects.
  • Build and create networks both internally and externally to the University, to inform research strategy, explore future research requirements and share research ideas. 

The above list of responsibilities may not be exhaustive, and the post holder will be required to undertake such tasks and responsibilities as may reasonably be expected within the scope and grading of the post. 

Essential criteria  

1. PhD awarded in bioinformatics, statistical genetics, genetic epidemiology, or related discipline (Grade 6&7) 

2. Postdoctoral research experience in  bioinformatics, statistical genetics, genetic epidemiology or related discipline (Grade 7) 

3. Strong computational skills, with expertise in scripting in BASH and either R or Python (Grade 6&7) 

4. Experience with analysing complex datasets on high-performance compute clusters (Grade 6&7) 

5. A track record of generating creative and innovative solutions to scientific problems (Grade 6&7) 

6. Organised and systematic approach to research (Grade 6&7) 

7. Demonstrated ability to perform and publish high-impact research (Grade 6&7) 

8. Ability work successfully as part of a team, to supervise the work of others and to focus team efforts and motivate individuals (Grade 6&7) 

9. Exceptional presentation skills and data visualisation skills (Grade 6&7) 

10. Evidence of self-directed productivity (Grade 6&7) 

11. Ability to work under pressure and to meet deadlines (Grade 6&7) 

Desirable criteria

1. Experience of processing and analysis of human genetic and phenotype data, including EHR data (Grade 6&7) 

2. Experience in population genetics (Grade 6&7) 

3. Experience in genome interpretation for rare diseases (Grade 6&7) 

4. Knowledge and understanding of competitive research funding and ability to develop applications to funding bodies (Grade 7) 

For informal enquiries please contact Tim Hubbard [email protected] 

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