Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 5 of 5 for “"recall-by-genotype"”.
-
Ethical, Legal and Social/Societal Implications (ELSI) of Recall-by-Genotype (RbG) approaches in the Cooperative Health Research in South Tyrol (CHRIS) study on genetic risk factors of Parkinson’s disease (PD)
Recall-by-genotype (RbG) strategies are bottom-up approaches to conducting targeted follow-up studies or substudies with eligible participants. They use specific genetic information derived from pre-vious genome-wide association studies or whole-genome sequenc-ing enabled by next-generation …
-
Using genetic and genomic approaches to understand haematopoietic cellular biology and dysregulation in disease
… can represent intermediate processes disrupted by complex disease. I then apply such approaches to novel neutrophil functional phenotypes to ascertain whether such population-based approaches can be used to gain insight into neutrophil biology. Finally, I discuss studies of haematological blood …
-
Using molecular QTLs to identify cell types and causal variants for complex traits
… genetic effects can also now be modeled in vitro by differentiating human induced pluripotent stem cells (iPSCs) into specific cell types, including inaccessible cell types such as those of the brain. In this thesis, I explore a range of approaches for using QTLs to identify causal variants and to …
-
Functional Investigation of Genetic Determinants of Red Blood Cell Traits
… using a tractable model, as provided by the haematopoietic system. A recent GWAS of 36 blood cell traits identified 1399 genetic variants associated with 12 red blood cell traits. I implemented a systematic bioinformatics strategy to prioritise candidate functional variants and genes …
-
Recessive and rare variant effects on common diseases and the immune cell transcriptome
… diseases in G&H. We imputed variants into 44,190 genotyped individuals, using two imputation panels: a set of 4,982 exomes from within the cohort, and the TOPMed-r2 panel. We then performed association testing with 898 common diseases, identifying 207 loci that reached standard genome-wide …