Postdoc Fellow - Exploring genetic resilience using 500K exomes (AstraZeneca)

Postdoc Fellow - Exploring genetic resilience using 500K exomes (AstraZeneca)

Field: Bioinformatics

Description: This role in AZ’s Centre for Genomics Research (CGR) focusses on using whole exome sequencing data from the world-renowned UK Biobank to explore genetic resilience and loss-of-function carrier phenotypes, which are of interest because understanding these phenomena has the potential to yield insight into biology of and resilience to disease. Genetic resilience refers to the situation whereby individuals whose genomes harbour bona fide dominant-acting pathogenic variants remain ostensibly healthy. One possible reason for this is ‘suppressor’ variant(s) that counteract the effect of the pathogenic variant. Furthermore, heterozygous carriers of some recessive loss-of-function disease alleles can exhibit a related or sub-clinical phenotype, although this is poorly understood for many recessive-acting genes. You’ll work with the CGR Analytics & Informatics team using AZ’s advanced access to the UK Biobank, which combines genetic (genotyping and whole exome sequencing) and phenotypic data from over 500,000 individuals in an unprecedented combination of breadth and depth. The UK Biobank also provides an exemplar opportunity to apply advanced analytics including PheWAS and machine learning algorithms to address the goals of the project.

Location: Royston, England, United Kingdom

Website: here