In my studies we are able to identify and test association to rare sequence variants (minor allele frequency of 1-0.01%) in genome-wide association studies. In Iceland, we used a learning set based on whole-genome sequencing of a large fraction (~15%) of the nation followed by imputation on a set containing close to 50% of this population This increased the likelihood of finding, imputing and testing rare sequence variants. In addition to having a large genetic set, it is also important to have a large phenotype data to associate the variants with a phenotype. Therefore, to assess the effect of rare sequence variants, I studied quantitative hematological traits. Quantitative hematological traits are routinely measured in the medical context and a large fraction of Icelanders have available blood measurements.
In this talk I will go through results of my doctoral studies at DeCODE genetics, with focus on quantitative hematological traits. The three studies I will talk about are meta-analysis of genome-wide association studies of hemoglobin concentration (PMID: 32327693), genome-wide association study of serum erythropoieitin in Iceland (PMID: 30271932), and unpublished results ready for submission of a genome-wide association study of neutrophil nuclear morphology in Iceland.
Zoom link: https://eu01web.zoom.us/j/65698459471