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Familial Studies in Whole Exome and Genome SequencingFarlow, Janice L. January 2015 (has links)
Indiana University-Purdue University Indianapolis (IUPUI) / Population genetics has been revolutionized by the advent of high-throughput
sequencing (HTS) methods in the 21st century. Modern day sequencers are now
capable of sequencing entire exomes and genomes at unprecedented speed and
accuracy. An explosion of bioinformatics software and data analysis tools now
makes sequencing accessible for gene discovery in both rare Mendelian and
complex disease. Family-based sequencing studies in particular have great
potential for elucidating the genetic basis for many more diseases.
We apply both whole exome and genome sequencing to three different cases of
familial disease: intracranial aneurysm (IA), Parkinson disease (PD), and X-linked ataxia dementia (XLAD). IA and PD are both common, complex traits that
inflict a devastating disease burden worldwide, mostly due to few effective
therapeutic interventions. Little of the heritability of both IA and PD has been
explained to date, especially as it relates to the impact of rare variation on
disease. XLAD is an extremely rare neurological disease described thus far in
one kindred. Although promising results have been achieved through previous
genetic study designs, the causative gene has not yet been identified. For all
three diseases, HTS offers an opportunity to explore the role of rare variation in
disease pathogenesis. In each study, we explore the opportunities and
challenges of family-based HTS for different disease models. The work presented herein contributes effective practices for study design, analysis, and
interpretation in a rapidly growing field still replete with questions about how best
to implement HTS in studying familial disease.
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Characterization of circulating free DNA in healthy and diseased individuals / Maniesh van der VaartVan der Vaart, Maniesh January 2009 (has links)
Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2009.
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Characterization of circulating free DNA in healthy and diseased individuals / Maniesh van der VaartVan der Vaart, Maniesh January 2009 (has links)
Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2009.
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Exploring the Sequence Landscape of the Four-helix Bundle Protein ROP using DeepSequencingPanneerselvam, Nishanthi January 2013 (has links)
No description available.
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Structural and synthetic studies on biologically interesting peptidesDaley, Donald John January 1987 (has links)
No description available.
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A molecular genetic analysis of yeast chromosome IXSmith, Victoria January 1992 (has links)
No description available.
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Studies on the Epstein-Barr virus genomeGibson, T. J. January 1984 (has links)
No description available.
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Neuroanatomy and phylogeny of cannabinoid signallingEgertova, Michaela January 1999 (has links)
No description available.
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Novel peptide discovery : isolation and characterisation of peptides with antidiabetic properties from the skin secretions of amphibiansMarenah, Lamin January 2001 (has links)
No description available.
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The physical map of the genome of Caenorhabditis elegansCoulson, Alan Robert January 1994 (has links)
No description available.
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