Research Associate OR Research Fellow at King’s College London

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.

Contract type

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