We are seeking a highly motivated postdoctoral fellow to undertake computational genetics research as part of the Genomics England Clinical Interpretation Partnership ( www.genomicsengland.co.uk/research/academic). The post will be available for up to 36 months.
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 to both individual and systematically investigations improve this diagnostic rate.
This ‘postdoctoral research fellow’ role represents a unique opportunity to work in the Genomics England research environment to apply novel algorithms to aid interpretation as well as encouraging innovation across the research community. One way to help improve 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 results of the first 10 years of challenges to reseachers (arxiv.org/abs/2205.05897). Developing blind test truth datasets for CAGI is hard, particularly given the need to protect patient privacy. Part of this role is to derive 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 represents an opportunity to generate scientific insights from this unique data set, including the ability to generate insights into biological processes and target discovery. It is also an opportunity to apply the 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 all aspects of contemporary human genetic studies, 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 ‘research fellow’ post represents an exceptional opportunity for career development within a highly supportive environment for both early- and mid-career researchers.
This post will be offered on an a fixed-term contract for up to 3 years.
This is a full-time post – 35 hours per week
• 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.
1. PhD awarded in bioinformatics, statistical genetics, genetic epidemiology, or related discipline
2. Strong computational skills, with expertise in scripting in BASH and either R or Python
3. Experience with analysing complex datasets on high-performance compute clusters
4. A track record of generating creative and innovative solutions to scientific problems
5. Organised and systematic approach to research
6. Demonstrated ability to perform and publish high-impact research
7. Ability work successfully as part of a team, to supervise the work of others and to focus team efforts and motivate individuals
8. Exceptional presentation skills and data visualisation skills
9. Evidence of self-directed productivity
10. Ability to work under pressure and to meet deadlines
1. Experience of processing and analysis of human genetic and phenotype data, including EHR data
2. Experience in population genetics
3. Knowledge and understanding of competitive research funding and ability to develop applications to funding bodies
Interested in applying for more such jobs?Click Here
TransFlow (Transmission Workflow), a convenient, quick, effective, and thorough WGS-based transmission analysis pipeline, is presented by Chinese researchers. TransFlow integrates a number of cutting-edge...
CBIRT provides short term training in bioinformatics for students/researchers/life science graduates, etc. The program aims at providing rigourous training required to excel in current dynamic scientific research environment. For more details