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 9 of 9 for “"common and rare variants"”.
-
Linear mixed model for multi-level omics data
… medicine with emerging genetic findings and other demonstrated knowledge (Ashley, 2015). While rare genetic variants, multi-omic information and family structure have provided unprecedented data resources for predictive studies, few related analytical approaches were developed in …
-
Recessive and rare variant effects on common diseases and the immune cell transcriptome
… biology of phenotypes, improves risk prediction, and contributes to developing better therapeutics. Different types of variant effects contribute to the heritability of a trait, and in this thesis I focused on recessive effects and rare, loss-of-function variant (LoF) effects. Genes & Health (G&H) …
-
Network based analysis of genetic disease associations
Despite extensive efforts and many promising early findings, genome-wide association studies have explained only a small fraction of the genetic factors contributing to common human diseases. There are many theories about where this "missing heritability" might lie, but increasingly the prevailing …
-
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
… of severe childhood developmental disorders are rare, deleterious, protein-coding changes that cause Mendelian disorders. Children with these disorders typically show early-onset impairment in growth, learning and adaptive behaviours. Linkage and whole exome sequencing studies on these patients …
-
DISSECTING THE POLYGENIC LANDSCAPE OF HUMAN COMPLEX TRAITS AND DISEASES IN A SOUTHERN ITALIAN COHORT
Complex traits and diseases are shaped by the combined effects of common and rare genetic variants, yet their contribution to risk is still poorly characterised in Southern European populations. This thesis addresses this gap by analysing the genetic architecture of traits and diseases in Italy, …
-
From Phenotype to Genotype: Discovery of New Molecular Primary Immunodeficiencies
… has fundamentally shaped our understanding of the immune system, and that fountain of knowledge has continued to expand explosively as we enter the genomic era with the dawn of CRISPR and personalized medicine. In this work, I describe four new monogenetic causes of primary …
-
Genome-wide Genotype Imputation-Aspects of Quality, Performance and Practical Implementation
Finding a relation between a particular phenotype and genotype is one of the central themes in medical genetics. Single-nucleotide polymorphisms are easily assessable markers allowing genome wide association (GWA) studies and meta-analysis. Hundreds of such analyses were performed in the last …
-
A multi-ancestry genetic analysis of type 2 diabetes
… It is one of the leading causes of death and costs over $1 trillion in annual global health expenditures. Type 2 diabetes (T2D) comprises ~90% of diabetes cases, is characterised by pancreatic islet beta cell dysfunction and reduced insulin response in insulin-sensitive tissues, and is …
-
Functional Investigation of Genetic Determinants of Red Blood Cell Traits
… association studies (GWAS) have identified thousands of genetic loci associated with blood cell traits. However, the identification and interpretation of candidate causal variants and genes remain challenging. With increasing power to detect genetic associations, many loci reveal multiple …