Bioinformatician - Polygenic Score Catalog Cambridge, East of England, England
Job description
We are looking for a Bioinformatician to work on the Polygenic Score (PGS) Catalog, a collaborative project between the Department of Public Health & Primary Care, EMBL European Bioinformatics Institute, and Health Data Research UK. Since 2019, the PGS Catalog (www.PGSCatalog.org) has been a leading, high-quality data repository for published polygenic scores for a wide range of diseases (e.g. CVD, breast cancer, diabetes) and traits collected through curation and data submitted by authors. The database contains the information necessary for both research and clinical uses of PGS (e.g. SNP information, sample/cohort information, score development details, benchmarking), and is co-developed with the NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas).
The post holder will work directly with our team of expert genetic epidemiologists, biocurators, and a software developer as well as our users and data submitters/authors to deliver the PGS Catalog, a resource with real scientific impact and a variety of clinical applications (data from the Catalog has already been used to return results in clinical trials). The role of the bioinformatician will be to contribute to ongoing PGS Catalog development, software, and data analysis in the following ways:
- Developing and deploying open-source software tools that allow polygenic scores from both the Catalog and user-developed scores to be calculated by external users and benchmarking cohorts. Examples of our current work can be found on our github (https://github.com/PGScatalog).
- Working with software developers and colleagues at EBI to integrate the data flows between the GWAS and PGS Catalogs.
- Collaborating with other researchers and cohorts, to benchmark polygenic score performance.
Jointly supervised by Professor Samuel Lambert (Assistant Professor of Health Data Science) and Professor Michael Inouye (Professor of Systems Genomics and Population Health). Our groups have a strong commitment to open-science and creating widely used resources (www.PGSCatalog.org, www.OmicsPred.org) and software tools (https://github.com/PGScatalog/pgsc_calc).
The post will be located at the new Victor Phillip Dahdaleh Heart & Lunch Research Institute on the Cambridge Biomedical Campus.
This position is available full-time or part time (0.8FTE) immediately for up to 2 years with the possibility of extension.
We strongly value and encourage Equity, Diversity and Inclusion as well as a flexible working environment.
If you have any questions about this vacancy or the application process, please contact Samuel Lambert [email protected]
Location of post: Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Victor Phillip Dahdaleh Heart and Lung Research Institute, Papworth Road, Cambridge CB2 0BB.
Click the 'Apply' button below to register an account with our recruitment system (if you have not already) and apply online.
Closing date: 18 October 2023
Interview dates: Week commencing 23 October 2023
Please ensure that you upload a covering letter and CV in the Upload section of the online application. The covering letter should outline how you match the criteria for the post and why you are applying for this role. If you upload any additional documents that have not been requested, we will not be able to consider these as part of your application.
Please include details of your referees, including e-mail address and phone number, one of which must be your most recent line manager.
Please quote reference RH38505 on your application and in any correspondence about this vacancy.
The University actively supports equality, diversity and inclusion and encourages applications from all sections of society.
The University has a responsibility to ensure that all employees are eligible to live and work in the UK.
