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 11 of 11 for “"human genetic variation"”.
-
An interdisciplinary approach leveraging human genetic variation to identify novel mechanisms of liver disease and pregnancy sickness
A major aim of human genetics in both academic in industrial spheres is to translate a genetic association to a mechanistic understanding of the disease process or trait being studied. The rewards in achieving this are large – a detailed mechanistic understanding of how genetic variation affects a …
-
Through the layers of the Ethiopian genome: a survey of human genetic variation based on genome-wide genotyping and re-sequencing data
… outstanding fossil record and richness of human diversity, the Horn of Africa and, particularly, the Ethiopian region offers an unmatched opportunity to investigate our origins from a genetic perspective. To carry out a genome-wide survey of this region, 13 out of the estimated 80 extant …
-
Investigation of HIV-TB co-infection through analysis of the potential impact of host genetic variation on host-pathogen protein interactions
… both infectious diseases, such as South Africa. Human genetic variation adds further complexity, with variants affecting disease susceptibility and response to treatment. The identification of variants in African populations is affected by reference mapping bias, especially in complex regions …
-
Using genetic and genomic approaches to understand haematopoietic cellular biology and dysregulation in disease
Genetic and genomic approaches have revolutionised the way we address disease aetiology, potential treatment and methods to understand fundamental biology. Many different approaches can be applied to attempt to resolve the mechanisms through which sequence variation disrupts downstream biological …
-
Proxy genotypes and phenotypes for human genetics
Genetic mapping by association is an unbiased approach to discover genes and pathways influencing disease traits and response to drugs and environmental exposures. There are two key obstacles to mapping in humans: (1) The full sequence of study subjects cannot yet be obtained; and (2) There are …
-
Interrogation of CRISPR-Cas targeting specificity for mammalian genome engineering
… industrial, and biomedical applications. Human genome editing with CRISPR-Cas just recently made its debut in human clinical trials and has immense therapeutic potential to fix disease-causing mutations at the level of DNA. Ensuring the integrity and safety of research, industrial, and …
-
Retrotransposon mediated genomic fluidity in the human and chimpanzee lineages
… numbers of ~520,000 and >1 million within the human genome, respectively. They are associated with human genetic variation and genomic rearrangement. Although they are abundant throughout primate genomes, their propagation strategy remains poorly understood. The recently released human and …
-
Somatic retrotransposition in the cancer genome
… algorithms. Retrotransposons comprise 42% of the human genome and have the capacity to "jump" across the genome in a copy-and-paste manner. Recent studies have identified families of retrotransposable elements that are currently active. In fact, retrotransposons constitute a major source of human …
-
The effect of non-coding variants on gene transcription in human blood cell types
To understand complex genetic diseases it is necessary to study DNA, its transcription, translation and regulation thereof. In a mechanistic view diseases can be caused by alterations in the DNA sequence or by dysregulation of gene expression. To understand cell regulation, first connections have …
-
Statistical analysis of short template switch mutations in human genomes
Many complex rearrangements arise in human genomes through template switch mutations, which occur during DNA replication when there is a transient polymerase switch to an alternate template nearby in three-dimensional space. These variants are routinely captured at kilobase-to-megabase scales in …