Contribution of polygenic scores to hematological traits and diseases

Summary

We have recently performed strongly statistically powered genotype-phenotype association studies and identified thousands of genetic variants involved in blood cell production. These variants together can explain a large amount of variability in blood cell composition among healthy individuals. However, it is unknown if and how they contribute to blood related diseases. We would like to use data from participants from the NIHR BioResource project for whom full blood count data are available to investigate whether a genetic predisposition to high or low blood cell counts may predict disease status in patients for whom no causal variants have been reported. Furthermore, we curated a list of new candidate variants that show statistic evidence of potential pathogenicity. We would like to check for the presence of these variants in the above patients, in order to validate the findings.