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.
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Showing 1 to 7 of 7 for “"whole exome sequence"”.
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Detection, causes and consequences of sex chromosome mosaicism
… much progress in the detection, causes and consequences of sex chromosome mosaicism especially LOY. On the contrary, the studies of LOX are still very limited. The most recent genome-wide association study (GWAS) to investigate the genetic determinants of LOY in 205,011 males identified 156 …
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Bioinformatics Analysis of Whole-Exome Sequencing Data for the Identification of Nuclear and Chloroplast Diversity in Barley
… affect heritable phenotypes. However, sequencing whole genomes is still an expensive and time-consuming process compared to targeted sequencing. In this study, targeted exome sequencing data from a large set of diverse geo-referenced barley germplasm have been used to study nuclear and chloroplast …
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Detection of Genes Influencing Chronic and Mendelian Disease Via Loss-of-Function Variation
<p>A typical human exome harbors dozens of loss-of-function (LOF) variants predicted to severely disrupt or abolish gene function. These variants are enriched at the extremely rare end of the allele frequency spectrum (< 0.1%), suggesting purifying selection against these sites. However, most …
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Molecular characterization in human neurons of genes associated with the control of bodyweight and feeding behaviour
… mutations in ROCK1 and KSR2. In parallel, whole exome-sequence analyses for adult BMI in up to 587,027 individuals revealed rare loss of function variants in the BSN gene that lead to severe obesity in humans. We anticipated involvement of the novel genes of interest in brain control of …
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Integrated approaches to elucidate the genetic architecture of congenital heart defects
… next generation sequencing (NGS) was used to sequence all coding genes (whole exome) coupled with various analytical pipelines and tools to identify candidate genes in different family-based study designs. Since there is no general consensus on the underlying genetic model of isolated CHD, I …
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Using human genomics to decipher biological mechanisms underlying reproductive ageing and fertility in women
… with robust functional models. Chapter 3 uses whole exome sequence data to identify rare protein-coding variants associated with menopause timing in ~120K women in the UK Biobank (UKBB), and implicates five novel ANM genes with effect sizes up to ~5 times larger than previously discovered for …