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 10 of 10 for “"Mendelian disease"”.
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
… the contribution of LOF variation to health and disease within the general population remains largely uncharacterized.</p> <p>Using whole exome sequence from 8,554 participants in the Atherosclerosis Risk in Communities (ARIC) study, we explored the impact of LOF variation on a broad spectrum of …
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Computational methods to dissect the genetic basis of human disease
… (GWAS) have been successful in identifying disease-associated genetic variants. However, the path from GWAS to biological insight remains challenging, notably in identifying relevant biological pathways, explaining mechanistic links between diseases, and nominating disease-critical tissues …
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New Score Tests for Genetic Linkage Analysis in a Likelihood Framework
… the successful primary tool for mapping many Mendelian traits and some complex traits until the genetic analysis paradigm shifted from rare Mendelian disease mapping using family data to the common variant-common disease mapping mainly using unrelated case-control data, i.e., genome-wise …
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Structure and Function Studies on tRNA Splicing Endonuclease
… amino acid mutations in TSEN cause the human Mendelian disease pontocerebellar hypoplasia (PCH) by an unknown mechanism. Recently, several groups have determined the structure of human TSEN, revealing similarities and differences between the human, yeast, and archaeal versions of the complex. …
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Common variants in antibody deficiencies
… immunity (IEIs) comprise a group of almost 500 diseases charac- terised by immune dysfunction of genetic origin. Many of these disorders represent canoni- cal examples of Mendelian disease and study of their genetic aetiology is largely conducted within a rare-variant, monogenic paradigm. …
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Methods for Determining the Genetic Causes of Rare Diseases
… sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many unexplained rare diseases is hindered by a paucity of cases with a shared molecular …
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Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
… the molecular mechanisms underlying these diseases. The advent of next-generation sequencing has accelerated discovery of disease-causing genetic variants and is showing numerous benefits for research and medicine. I describe the application of next-generation sequencing, namely LipidSeq™ ‒ …
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The Search for Regulatory Mutations in Gitelman Syndrome
… large effect sizes, which are responsible for Mendelian diseases. Roughly 70% of human genes are single copy and have orthologs across the vertebrate lineage, suggesting that they are under purifying selection. This suggests that at least 10,000 genes will have Mendelian phenotypes when mutated …
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Genomic and metabolomic interrogation of body composition and insulin resistance endotypes
… shaping risk of more prevalent forms of disease. Healthy skeletal muscle and adipose tissue support physical function and cardiometabolic resilience across the life course. In the general population age-related lean-mass loss and/or disrupted adipose homeostasis are associated with …
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
… 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 have previously focused on identifying diagnostic rare …